Inborn errors of metabolism

This early-stage trial tests a single intravenous infusion of NGGT002, a gene therapy designed to deliver a working copy of the PAH gene to adults with classic phenylketonuria (PKU). The goal is to see if this approach can safely lower phenylalanine levels in the blood, which cou…

This trial is testing an experimental therapy called CD22 CAR T cells in adults with certain types of B cell lymphomas that have come back or not responded to previous treatments. The therapy involves collecting a patient's own immune cells, modifying them to recognize and attack…

This study tests a new gene therapy for children with a severe immune disorder called Artemis-SCID, where the body cannot fight infections. Doctors take the child's own blood stem cells, fix the faulty gene in a lab, and put the corrected cells back. The goal is to rebuild a work…

This phase 2 study tests an oral drug called nemtabrutinib in about 490 people with blood cancers like chronic lymphocytic leukemia, non-Hodgkin lymphoma, and Waldenstrom's macroglobulinemia. The goal is to see if the drug can shrink tumors and control the cancer, while also chec…

This study tests an oral drug called nizubaglustat in children and teens aged 4 and older with Niemann-Pick type C disease, a rare genetic disorder that affects movement and thinking. Participants will take the drug or a placebo for 18 months to see if it slows the disease and im…

This early-stage trial is testing a new drug called DNL952 in 32 adults with late-onset Pompe disease. The main goal is to check if the drug is safe and how the body processes it. Participants will receive the drug through an IV infusion at different doses.

This study looks at whether the diabetes drug pioglitazone can improve how the liver processes energy in people with nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes. Researchers will measure liver mitochondrial function using special tracers before and after 16 weeks…

This phase 2 trial tests an experimental drug called vamifeport in 84 adults with HFE-related hereditary hemochromatosis, a genetic condition causing iron buildup. The drug aims to reduce liver iron levels, potentially offering an alternative to regular blood removal. Participant…

Cystinosis is a rare inherited disease that causes kidney failure and poor growth due to cystine buildup in cells. This study follows 330 patients taking cysteamine, a drug that lowers cystine levels, to track long-term effects, detect new complications, and support genetic resea…

This study tests a new medicine called ersodetug for people whose tumors cause dangerously low blood sugar that standard treatments can't control. About 16 adults with insulin-producing tumors will receive the drug alongside their usual care. The main goal is to see if ersodetug …

This trial tests whether a structured six-month lifestyle modification program can improve penile blood flow and erectile function in men with metabolic syndrome-associated erectile dysfunction. Participants receive dietary counseling, exercise guidance, weight management, smokin…

This Phase 3 trial tests a gene therapy called FLT201 for adults with Gaucher disease type 1. The goal is to see if a single dose can keep blood counts stable so patients can stop their regular enzyme replacement or substrate reduction therapy. The study will enroll 45 people who…

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This Phase 3 trial tests a new drug called nucresiran in 125 people with a rare inherited condition that damages nerves (hATTR-PN). The drug is given as a shot under the skin every 6 months and aims to slow nerve damage and improve quality of life. Researchers will compare it to …

This early-stage study tests an experimental drug called EXS73565 in about 50 adults with certain blood cancers (like lymphoma or leukemia) that returned or didn't respond to standard treatments. The main goal is to check safety and find the right dose, while also seeing if the d…

This study tests whether a low dose of glucagon, given before exercise, can prevent blood sugar drops in adults with type 1 diabetes who use an automated insulin pump. Eighteen participants will exercise after a meal, comparing glucagon to a standard glucose drink. The goal is to…

This program provides continued access to lucerastat for people with Fabry disease who were previously enrolled in a clinical trial of this drug. The goal is to allow these patients to keep receiving the treatment after the original study was stopped. It focuses on maintaining tr…

This study tests a new drug, atumelnant, in 150 adults with classic congenital adrenal hyperplasia (CAH). The goal is to see if it can safely control hormone levels and allow patients to take lower doses of their usual steroid medications. Participants will receive either atumeln…

This study tests a one-time gene therapy called ECUR-506 in baby boys under 9 months old with a severe form of OTC deficiency, a genetic disorder that prevents the body from breaking down ammonia. The goal is to see if the treatment is safe and can reduce dangerous ammonia levels…

This study tests a new digital tool called P3-EX that helps doctors create personalized exercise plans for patients with heart disease risk factors like high blood pressure, diabetes, and obesity. Researchers will recruit 24 doctors and 48 patients to compare the new tool with a …

This study tests an experimental drug, YOLT-203, in 36 children and adults with primary hyperoxaluria type 1 (PH1), a rare genetic condition that causes painful kidney stones and kidney damage. The goal is to see if a single dose can safely lower oxalate levels in urine and blood…

This study tests a daily oral medication called atumelnant in children aged 1 to 18 with classic congenital adrenal hyperplasia, a genetic condition that disrupts hormone production. The goal is to see if the drug can safely normalize hormone levels and allow patients to lower th…

This study tests an oral medication called remibrutinib for adults with moderate-to-severe papulopustular rosacea, a skin condition causing red bumps and pustules on the face. The drug works by blocking a protein involved in inflammation. Researchers will measure whether it reduc…

This trial tests whether a mobile app called NutriSteppe can improve blood sugar control and weight loss in adults with type 2 diabetes or obesity who are already taking GLP-1 medications like semaglutide. Over 12 weeks, half the participants will use the app for personalized mea…

This study tests a new way to give Alpha1-Proteinase Inhibitor—a medicine that helps protect the lungs in people with Alpha-1 Antitrypsin Deficiency. Instead of getting it through a vein at a clinic, participants will receive it as a weekly injection under the skin. The trial wil…

This study is for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain and skin reactions to sunlight. The purpose is to check the long-term safety of an oral medication called dersimelagon. About 301 participant…

This study tests a drug called cosibelimab in 80 people with advanced skin cancer who also have a kidney transplant or a blood cancer. The drug works by helping the immune system attack cancer cells. Researchers will check if the tumors shrink and monitor for side effects.

This early-phase trial tests a single intravenous dose of a gene editing therapy called LNP.UCD.ABE in 7 children with severe urea cycle disorders. The therapy aims to correct the genetic defect using a lipid nanoparticle to deliver a base editor. The main goal is to check safety…

This study tests a new drug called AZD4956, alone or with other cancer drugs, in people with advanced or spreading solid tumors that have a specific DNA repair defect (HRR deficiency). The main goals are to check safety, find the best dose, and see if the drug can shrink tumors. …

This study tests a program called LAGOM designed to improve heart health and quality of life for people with psychotic disorders. 644 adults from six clinics in Gothenburg will either receive the LAGOM program or standard care. The program includes regular check-ups, motivational…

This early-stage trial tests a new gene-editing medicine called TSRA-196 in 72 adults with a severe form of alpha-1 antitrypsin deficiency (the PiZZ genotype) who have lung or liver problems. The treatment is given by IV infusion and aims to raise levels of a protective protein. …

This study tests whether eating only during a specific window each day (time-restricted feeding) can improve metabolic health in postmenopausal women who have metabolic syndrome or are prediabetic. Researchers will measure changes in insulin sensitivity, body weight, and blood fa…

This study tests a daily pill called enlicitide decanoate in 153 children and teens with heterozygous familial hypercholesterolemia (HeFH), a genetic condition causing very high cholesterol. The goal is to see if the drug safely lowers LDL cholesterol more than a placebo. Researc…

This trial is investigating whether combining an immunotherapy drug (a PD-1 inhibitor like sintilimab or pembrolizumab) with progesterone therapy can help young women with early-stage, mismatch repair-deficient (MMRd) endometrial cancer achieve complete remission while preserving…

This study tests a drug called PRX-102 (pegunigalsidase alfa) in 22 children and teens aged 2 to 18 with Fabry disease, a rare genetic disorder that causes pain and organ damage. The drug is an enzyme replacement therapy given by infusion every two weeks. Researchers will monitor…

This trial tests whether pegtibatinase, a lab-made version of the CBS enzyme, can safely lower homocysteine levels in people with classical homocystinuria (HCU), a rare genetic condition that causes harmful buildup of homocysteine and methionine. The study includes children and a…

This pilot study tests whether adding powder made from Chardonnay grape skins and seeds to the daily diet can improve gut and heart health. The study includes postmenopausal women aged 45-70 with excess weight and high triglycerides. Participants will consume the powder daily, an…

This Phase 2 trial tests whether a drug called 2-HOBA can improve the function of HDL (good cholesterol) in people with familial hypercholesterolemia, an inherited condition causing very high cholesterol. Researchers will give 72 participants either 2-HOBA or a placebo for six we…

This study is tracking how well the drug zanubrutinib works and its safety in people with Waldenström macroglobulinemia, a rare blood cancer. Researchers are especially interested in patients with specific genetic mutations and those from racial and ethnic minority groups. The st…

This study looks at how well a combination of three cholesterol-lowering medicines (bempedoic acid, ezetimibe, and a statin) works in real-world patients with high cholesterol or mixed lipid problems. About 2,000 adults at high or very high risk will be followed for up to a year.…

This Phase 3 trial tests pegtibatinase, an enzyme given as a shot, in 70 people aged 12–65 with classical homocystinuria. The goal is to see if it safely lowers high homocysteine levels when added to standard care. Participants receive either the drug or a placebo for 24 weeks.

This study tests whether personalized marketing messages and discounts can encourage people with prediabetes or type 2 diabetes to switch from refined grains to whole grains when shopping for groceries online. About 216 adults aged 45-70 from the Philadelphia area who already sho…

This study tests a new oral drug, BGB-16673, designed to destroy a protein called BTK that helps certain blood cancers grow. The trial includes about 645 people with various B-cell cancers (like lymphoma and leukemia) that have come back or not responded to prior treatments. The …

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This study tests whether empagliflozin, a drug used for diabetes, can reduce chronic inflammation in people with obesity and metabolic syndrome. Researchers will measure immune cells and blood vessel function in 74 adults. The goal is to find a new way to lower heart disease risk…

This study tests whether a behavioral program that reduces evening light exposure and encourages finishing meals at least four hours before bedtime can improve how the body handles sugar. Overweight adults aged 18-45 who habitually sleep less than 6.5 hours per night will be rand…

This study tests a new drug called mibavademab for people with generalized lipodystrophy, a rare condition where the body lacks fat tissue. The goal is to see if the drug can improve blood sugar, lower blood fats, and reduce liver fat. About 28 children and adults will take part …

This registry will follow 20 people in China with progressive familial intrahepatic cholestasis (PFIC) who are taking odevixibat (Bylvay) as part of their normal care. The goal is to see how safe the drug is over the long term and how well it controls symptoms like severe itching…

This early-stage trial tests an oral drug called ALE1 for hypophosphatasia (HPP), a rare genetic bone disease. The study will first check safety and how the drug moves through the body in healthy volunteers, then in adult HPP patients. It is a small, placebo-controlled study to f…

This study tests whether the diabetes drug metformin can prevent blood sugar increases caused by statins in people with schizophrenia. Researchers will give 400 patients either metformin or a placebo alongside atorvastatin for six months. The goal is to see if metformin helps kee…

This early-stage trial tests a single IV dose of VERVE-102, a gene-editing drug designed to permanently lower LDL (bad) cholesterol by turning off a specific gene in the liver. It involves 85 adults with inherited high cholesterol or early heart disease who still need lower chole…

This expanded access program provides bitopertin (DISC-1459) to patients aged 12 and older with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who have no satisfactory treatment options in the US. The goal is to offer access and gather safety information. Pa…

This registry will follow 10 people with progressive familial intrahepatic cholestasis (PFIC) in South Korea who are taking odevixibat (Bylvay). The goal is to see how safe and effective the drug is over the long term in real-world use. Researchers will track side effects and how…

This Phase 2 trial tests an injection called SYH2070 in 18 Chinese adults with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol. Participants receive the drug for 48 weeks to see if it safely lowers their LDL cholesterol…

This Phase 2 trial tests a new drug called HDY015, which combines two medicines (QCZ484 and inclisiran) into a single injection. The goal is to see if it can safely lower both blood pressure and cholesterol in people who have both conditions. About 120 adults aged 18-75 with hype…

This study tests two experimental drugs (rocbrutinib and lacutoclax) taken together to treat several types of blood cancers, including lymphoma and leukemia. The goal is to see if the combination is safe and can shrink or control the cancer. About 92 adults who have already tried…

This early-stage trial tests a daily pill called APG-3288 in 180 adults with blood cancers like leukemia or lymphoma that have come back or not responded to standard treatments. The main goals are to find the safest dose and check for side effects. Researchers will also look for …

This study investigates whether combining bariatric surgery with a GLP-1 receptor agonist (semaglutide) leads to greater and more sustained weight loss than surgery alone in people with obesity. Researchers will follow 400 participants across multiple centers in China for up to t…

This study tests the drug acoramidis in people with transthyretin amyloid cardiomyopathy (ATTR-CM), a condition where abnormal proteins build up in the heart, weakening it. Over 36 months, researchers measure whether acoramidis improves heart function and structure using cardiac …

This trial tests whether a diet adapted to Puerto Rican culture can lower the risk of heart disease, type 2 diabetes, and obesity. Researchers will compare culturally tailored nutrition advice—emphasizing traditional healthy foods and limiting unhealthy ones—with standard healthy…

This study tests a new drug called ARC-02, given together with rituximab, in adults with B-cell non-Hodgkin lymphoma whose cancer has not responded to at least two prior treatments. The main goals are to check the safety of ARC-02 and find the best dose, while also looking at whe…

This study tests whether combining a daily oral diabetes medication (semaglutide) with a nasal insulin spray can improve memory, thinking, and blood flow in the brain. The trial enrolls older adults with mild cognitive impairment and metabolic syndrome, a group at high risk for d…

This early-stage trial tests a new drug called AIR-001 in 54 adults with alpha-1 antitrypsin deficiency (AATD) who have a specific genetic type (PiZZ). The study aims to check safety and how the body processes the drug. Participants receive increasing doses of AIR-001 under the s…

This early-stage trial tests a new CRISPR-based treatment called CTX310 for people with severe cholesterol and triglyceride problems that don't improve with standard therapies. The treatment uses a tiny fat bubble to deliver gene-editing tools that turn off a gene linked to high …

This study tests whether orlistat, a drug that blocks fat absorption, can safely lower very high blood triglycerides in people with type 1 hyperlipoproteinemia, a rare genetic disorder. About 28 participants aged 8 and older will take orlistat or a placebo for several months. The…

This study compares two exercise programs—high-intensity interval training (short bursts of fast stair climbing) and continuous endurance training (steady walking)—in adults with prediabetes. The goal is to see which approach better improves blood sugar control, body mass index, …

This study tests whether injecting sodium thiosulfate directly into abnormal calcium deposits can shrink them and reduce pain. It includes people with three rare conditions: systemic sclerosis, dermatomyositis, and a genetic disorder called iPPSD2. Participants receive up to 11 i…

This early-stage study tests whether ISP-001 is safe and tolerable in 11 people with a rare genetic disease called MPS I (Hurler-Scheie or Scheie types). Participants receive the experimental treatment and are monitored for side effects. The goal is to gather safety data for futu…

This small pilot study is testing whether eating Greek bottarga (grey mullet fish roe) every day can improve blood sugar, cholesterol, and inflammation in adults with prediabetes, diabetes, or obesity. About 20 participants will compare the effects of bottarga against a dairy pro…

This study investigates whether drinking a fiber-rich kodo millet porridge every day for 12 weeks can improve gut bacteria diversity and metabolic health in overweight or obese adults. Participants will consume a standardized porridge beverage while keeping their usual diet and a…

This study tests an experimental oral drug called MZE782 in adults with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down an amino acid called phenylalanine (Phe). High Phe levels can cause brain damage. The trial compares two doses of MZE782 aga…

This study investigates whether a 12-week treadmill walking program can improve metabolic syndrome in women with Behcet disease. Participants walk for 40 minutes three times a week. Researchers measure changes in cholesterol, triglycerides, blood sugar, blood pressure, and waist …

This study investigates penile transplantation as a way to replace a severely damaged or missing penis with a donor organ, aiming to restore appearance, sensation, and sexual function. It includes men aged 18-69 who have lost their penis due to trauma, surgery, or birth defects. …

This trial tests whether inclisiran, an injectable medication, can lower LDL cholesterol in patients who have multiple health conditions and take many drugs that interfere with standard statin therapy. Participants must be taking five or more prescription medications and have con…

This study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…

This study looks at whether a 12-week structured diet and exercise plan can help adults aged 50 and older with obesity and insulin resistance lose fat and improve muscle function. Participants will receive all meals and exercise three times a week under supervision. The goal is t…

This study tests whether Taiwan green propolis, a natural bee product, can improve blood lipids and body fat in adults with metabolic dysfunction-associated steatotic liver disease (MASLD), a common fatty liver condition linked to obesity and high cholesterol. About 60 participan…

This study follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …

This Phase 3 trial tests an injection called SYH2053 for people with heterozygous familial hypercholesterolemia (HeFH), a genetic condition causing very high LDL cholesterol. About 135 adults on stable statin therapy will receive either the drug or a placebo. The main goal is to …

This trial compares three cholesterol-lowering treatments—pitavastatin alone, pitavastatin plus ezetimibe, and atorvastatin—to see how they affect blood sugar control in people with heart disease and metabolic syndrome (but not diabetes). The main focus is on insulin resistance a…

This trial studies two experimental drugs, UIC202601 and UIC202602, designed to treat high blood pressure and high cholesterol. It enrolls healthy adults aged 19 to 55 to see how the drugs interact when taken together, focusing on safety and how the body processes them. Participa…

This trial tests whether intermittent dietary restrictions—either low-carb or calorie-restricted diets on two days per week—can reverse early signs of heart and metabolic problems in school-aged children aged 7 to 18. Participants have at least one risk factor like prediabetes, a…

This early-stage trial tests a single dose of an experimental oral drug called GenSci144 in healthy adults. The drug aims to block a transporter in the gut to reduce phenylalanine levels, which could help manage phenylketonuria (PKU). The study focuses on safety and how the body …

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This early-stage trial tests an experimental drug called PL54 in adults aged 18 to 55 with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down the amino acid phenylalanine. PL54 is an enzyme designed to help lower high blood phenylalanine levels, w…

This early-stage trial tests a single dose of TSHA-105, a gene therapy injected into the spinal fluid, in 8 people aged 2 to 20 with SLC13A5 citrate transporter disorder. The goal is to see if it is safe and whether it can improve motor and thinking skills. Because the trial is v…

This study tests whether wearing a continuous glucose monitor (CGM) for 3 months helps adults with prediabetes better control their blood sugar and stick to lifestyle changes compared to standard finger-prick testing. About 80 participants will be randomly assigned to use a CGM o…

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This study is for adults with recurrent glioblastoma, an aggressive brain cancer. It tests whether adding a precise type of radiation (stereotactic radiosurgery guided by a special PET scan) to a device that delivers electric fields to the brain (TTFields) helps people live longe…

This trial tests a gene therapy for Fanconi anemia, a rare genetic disorder that causes bone marrow failure and increases cancer risk. Participants receive their own stem cells that have been genetically corrected with a lentiviral vector to fix the faulty FANCA gene. The study e…

This trial tests a gene therapy for metachromatic leukodystrophy (MLD), a rare and life-threatening genetic disorder that damages the nervous system. The treatment uses a lentivirus to deliver a working copy of the ARSA gene directly into the spinal fluid and bloodstream. Up to 1…

This early-stage trial tests a gene therapy for propionic acidemia, a rare genetic disorder that causes dangerous metabolic crises and organ damage. The study will enroll 9 children aged 6 months to 2 years with confirmed PCCA gene mutations. The therapy uses a harmless virus to …

This study tests whether the antibiotic rifampin can safely lower high calcium levels in the blood and urine of people with a rare genetic mutation in the CYP24A1 gene. The condition can cause kidney stones and other problems. Sixty participants aged 6 months to 65 years will tak…

This early-stage trial is testing the safety of a dietary supplement called NMN in 8 people with a rare genetic disorder known as DHDDS-CDG, which affects movement and development. Participants will take 250 mg of NMN daily for 6 months, with an optional 12-month follow-up. The m…

This study tests whether a 20-day fasting schedule before hip replacement surgery can reduce complications like infections. 130 adults will either follow the fasting plan or receive standard care. Researchers will measure changes in gut bacteria and immune markers to see if fasti…

This clinical trial tests a new type of immunotherapy called 4SCAR-T, which uses a patient's own immune cells engineered to recognize and attack three different markers (GD2, PSMA, and CD276) on neuroblastoma cancer cells. The study enrolls children and adults (ages 1 to 65) with…

This study tests whether adding AGuIX gadolinium-based nanoparticles to standard brain radiation can better control brain metastases that are at high risk of coming back. About 134 adults with certain cancers (like melanoma, lung, breast, or colorectal) that have spread to the br…

This study tests whether adding methotrexate (a drug that calms the immune system) can help adults with PKU tolerate and respond better to Palynziq, a protein-based treatment. About 12 adults who either haven't taken Palynziq before or have high blood Phe levels despite treatment…

This study compares two cholesterol-lowering strategies in about 1,950 adults with chronic kidney disease and heart or blood vessel disease. One group gets a moderate-dose statin plus ezetimibe, the other gets a high-dose statin alone. The goal is to see if the combo is just as g…

This pilot study tests a 3-month program that combines online education, music-paced brisk walking, group discussions, and phone follow-ups for 40 adults with both metabolic syndrome and chronic kidney disease. The goal is to see if the program can reduce waist circumference and …

This study tests whether adding evolocumab, a cholesterol-lowering drug, to standard care can slow or stop plaque buildup in heart arteries after a heart attack. About 233 adults aged 40-75 who recently had a heart attack or unstable angina will receive either evolocumab plus sta…

This study tests whether sodium phenylbutyrate (ACER-001), a drug already approved for another condition, can help people with MCAD deficiency caused by a specific gene mutation. About 24 participants aged 4 and older will take the drug and be monitored for safety and how well it…

This study tests a new drug called obicetrapib against another drug, bempedoic acid, to see which lowers 'bad' cholesterol more effectively. It involves 426 adults with high cholesterol who are already on maximum cholesterol medications and are at high risk for heart problems. Th…

This pilot study is testing whether galantamine, a drug already approved for Alzheimer's disease, can safely reduce inflammation and treat metabolic syndrome in people with chronic spinal cord injury. The study will enroll 60 adults who use wheelchairs and have obesity-related wa…

This study tests whether a daily fiber supplement (resistant starch, like Benefiber) can improve heart health markers and gut bacteria in women with polycystic ovary syndrome (PCOS). One hundred women will take either the fiber or a placebo for 12 weeks, alongside standard birth …

This study tests whether giving people a live gut bacterium called Oxalobacter formigenes can lower the amount of oxalate in their urine. High urinary oxalate is a major risk factor for calcium oxalate kidney stones. Forty adults with a history of such stones who lack this bacter…

This study tests a drug called afatinib in 25 adults with Fanconi anemia who have advanced head and neck cancer that cannot be removed by surgery. Afatinib is a pill that blocks a protein helping cancer grow. The goal is to see if it can shrink tumors and control the disease. Res…

This study tests two drugs, toripalimab and celecoxib, in people with a specific type of colorectal cancer (dMMR or MSI-H) that has not spread far. The goal is to see if the treatment can make the tumor disappear completely, so some patients might not need surgery. About 105 adul…

This early-phase study aims to see if a natural substance called angiotensin-(1-7) can improve how the body uses insulin in people with obesity, insulin resistance, and high blood pressure. About 26 adults aged 18-60 will receive the peptide or a placebo infusion, and researchers…

This study tests an experimental drug called EDP167 in 20 adults with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing very high cholesterol. The drug aims to lower harmful cholesterol levels. Participants will receive multiple injections of EDP16…

This study looks at how well the drug tirzepatide works in everyday life for people with obesity (without diabetes) or type 2 diabetes (with or without obesity). About 160 adults in Paraguay will take the drug as part of their regular care and be followed for 52 weeks. Researcher…

This study tests whether a weekly injection of dulaglutide, a GLP-1 drug used for diabetes, can improve early insulin release in adults with cystic fibrosis who have trouble processing sugar. About 30 participants will receive the drug or no drug in a crossover design. The goal i…

This study is testing whether nattokinase, an enzyme from fermented soy, can reduce inflammation and improve cholesterol levels in people with high cholesterol. Researchers will measure blood markers of inflammation and heart risk in 48 adults over two months. The goal is to see …

This study follows about 52 people with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol and early heart disease. Researchers will compare those who get evinacumab (a cholesterol-lowering antibody) added to their usual t…

This study tests whether a sugar called L-fucose can improve movement and coordination in adults with GLUT1 deficiency syndrome, a rare genetic disorder that affects the brain's energy supply. Sixteen participants will receive either fucose or a placebo for a period, then switch,…

This early-stage trial tests a one-time gene therapy called VGM-R02b in up to 12 children aged 6 years or younger with Glutaric Acidemia Type I, a rare genetic disorder that can cause brain damage. The study aims to see if the treatment is safe and can improve symptoms like movem…

This study directly compares two popular weight-loss medications, tirzepatide and semaglutide, in 120 adults with obesity and metabolic syndrome. Participants will be randomly assigned to one drug and monitored for 12 months using advanced body scans, blood tests, and AI analysis…

This study tests whether adjusting sex hormone levels with aromatase inhibitors can improve metabolic health and sperm production in men with Klinefelter syndrome. It also examines if adding semaglutide (a weight-loss drug) or hCG provides extra benefits. The trial involves 150 m…

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…

This study tests whether breathing a special mix of low and high oxygen air (called intermittent hypoxic-hyperoxic training) can help lower blood sugar in people with type 2 diabetes. About 250 adults aged 50-74 will be split into groups receiving either a 3-day or 10-day course …

This study tests whether using a sit-stand desk at work can improve insulin sensitivity and reduce diabetes risk in 198 overweight, sedentary adults with prediabetes or other risk factors. Participants are randomly assigned to stand 2 or 3 hours per day at a sit-stand desk, or to…

This study compares two drugs, choline fenofibrate and policosanol, in 56 Korean adults with type 2 diabetes and high cholesterol who have early signs of artery plaque. The goal is to see if choline fenofibrate can reduce plaque buildup in the carotid artery, measured by 3D ultra…

This 12-week study tests whether replacing highly processed soy foods (like soy burgers) with less processed options (like tofu or edamame) can lower blood pressure and improve heart health in 300 adults with obesity, hypertension, and often type 2 diabetes. Participants use a di…

This study looks at whether adding omega-3 to a common statin (atorvastatin) can better reduce plaque buildup in the neck arteries of people with type 2 diabetes and high cholesterol. About 105 adults will be randomly assigned to get either atorvastatin plus omega-3 or atorvastat…

This study looks at whether exercise training, the drug liraglutide, or both together can improve blood flow to the heart and muscles and help the body use insulin better in adults with metabolic syndrome. About 80 participants will be randomly assigned to one of four groups: con…

This study tests whether a high-quality form of coenzyme Q10, a natural substance, can help reduce symptoms and improve daily life in veterans with Gulf War illness. Researchers will compare the supplement to a placebo in 192 veterans. The goal is to see if this approach offers a…

This study tests an experimental drug called AVTX-803 in people with leukocyte adhesion deficiency type II (LAD II), a rare genetic condition that weakens the immune system and leads to frequent infections. The trial will compare the drug against a period without treatment to see…

This phase 3 study is testing the long-term safety and effectiveness of AVTX-803, a form of L-fucose, in people with leukocyte adhesion deficiency type II (LAD II), a rare genetic disorder that weakens the immune system. Only 2 participants who completed a previous study are enro…

This Phase 3 study is testing the long-term safety of an oral drug called JNT-517 in 240 children and adults with phenylketonuria (PKU). All participants will receive the drug twice daily, with doses based on age and weight. The goal is to see if JNT-517 is safe to use over time …

This study tests a new drug called dorzagliatin in 44 adults with a rare, inherited form of diabetes (GCK-MODY). The drug works by activating a key enzyme to help the body better control blood sugar. Participants will receive both the drug and a placebo at different times to see …

This study tests a program called Pediatric Medication Therapy Management (pMTM) for children with complex medical conditions who take five or more medications. The program involves a thorough review of all medicines, optimizing the regimen, and creating a clear medication plan. …

This study looks at whether group medical visits, where patients with high cholesterol meet with a doctor together, can improve cholesterol levels and lifestyle habits. It involves 288 adults with dyslipidemia and aims to see if this approach is practical and effective. The goal …

This study is testing whether a daily capsule made from fermented fruits and vegetables (Rutazyme®) can improve body fat, waist size, and blood markers in adults with obesity. Forty participants will take either the supplement or a placebo for 12 weeks. Researchers will measure c…

This study looks at how fat cells work differently in normal-weight people with type 2 diabetes compared to those without diabetes. Researchers will test two drugs, pioglitazone and tirzepatide, to see if they improve insulin resistance and fat storage. About 104 adults aged 30-7…

This study tests a new drug called BGB-16673 for people in China with certain blood cancers (B-cell malignancies) that have come back or not responded to treatment. The drug works by breaking down a protein that helps cancer cells grow. The trial has two parts: first, finding the…

This study tests a gene therapy called BBP-812 in children up to 30 months old with Canavan disease, a rare genetic brain disorder. The treatment uses a harmless virus to deliver a working copy of the ASPA gene, aiming to reduce harmful brain chemicals and improve motor and think…

This study tests whether adding memory immune cells (CD45RO) to a stem cell transplant can help children fight off dangerous viral and fungal infections after the procedure. The transplant uses donor stem cells that have been stripped of certain cells to prevent graft-versus-host…

This study looks at how drinking whole-fat milk changes heart disease risk factors in adults with metabolic syndrome. Researchers will measure cholesterol, blood sugar, and blood vessel function in 40 participants. The goal is to see if whole-fat dairy is helpful or harmful for p…

This study looks at whether the time of year yerba mate is harvested and how people drink it (as hot mate, cold tereré, or both) can improve cholesterol and fat levels in the blood. About 198 regular yerba mate drinkers in Paraguay will be assigned to different groups and have th…

This study is testing a fixed-dose combination of two cholesterol-lowering drugs (Pitavastatin and Ezetimibe) in 10,000 adults with high cholesterol and metabolic syndrome. Researchers will track how much LDL ('bad') cholesterol drops after 24 and 48 weeks of treatment in real-wo…

This study tests a device that removes specific immune cells from donated stem cells before transplant. The goal is to lower the risk of graft-versus-host disease, where donor cells attack the patient's body. Up to 90 children and young adults (ages 0-30) will receive these treat…

This study tests whether a strict lifestyle program—eating only during an 8-hour window, walking 10,000 steps daily, and cutting 500 calories—can help obese adults with metabolic syndrome lose weight and improve heart health. After 24 weeks, participants also receive either Rybel…

This study follows 120 Israeli children and teens with type 1 diabetes who use the Medtronic 780G system, a closed-loop insulin pump that automatically adjusts insulin. Researchers will track blood sugar control, sleep, diet, and emotional well-being over two years. The goal is t…

This 16-week study tests whether a daily pill (obicetrapib) plus a twice-monthly shot (evolocumab, sold as Repatha) can lower a fatty particle called lipoprotein(a) that raises heart disease risk. About 69 adults with mildly high cholesterol and elevated Lp(a) will take the pill …

This trial tests a gene therapy for children with ADA-SCID, a severe immune disorder often called 'bubble boy disease.' Doctors take the child's own blood stem cells, add a working gene, and return them via infusion. The goal is to restore immune function and improve survival. Th…

This study tests a drug called N-acetyl-L-leucine (IB1001) in people aged 4 and older with Niemann-Pick disease type C, a rare genetic disorder that affects movement and thinking. The trial compares the drug to a placebo to see if it improves coordination and quality of life. Aft…

This study tests an investigational drug called MOTS-c in 120 adults with prediabetes and overweight or obesity. The goal is to see if 12 weeks of treatment can improve how the body uses insulin, compared to a placebo. All participants also receive standard lifestyle advice. The …

This study tests whether daily consumption of special food blends—made from apple and grape by-products, prebiotic fibers, oat beta-glucans, and omega-3s—can improve blood sugar, weight, and cholesterol in 40 adults at risk for metabolic syndrome. Participants eat the foods daily…

This study tests whether a reduced-calorie Mediterranean diet plus regular exercise helps middle-aged adults (30-50 years) with metabolic syndrome lose weight and keep it off. About 106 participants will either follow this lifestyle program or receive standard care. Researchers w…

This study tests whether eating peanuts and peanut products daily for six months can improve blood sugar, blood pressure, thinking skills, and gut health in people with prediabetes. Researchers will enroll 72 adults from diverse racial backgrounds. Participants will eat different…

This study is testing whether eating a diet rich in carbohydrates (60-65% of daily calories) can help people with acute intermittent porphyria (AIP), a rare genetic disorder that causes severe attacks of pain and other symptoms. Fifty adults with AIP will try two different diet p…

This study tests whether a daily dose of freeze-dried wild blueberry powder can improve blood sugar, blood pressure, and brain function in women with prediabetes. Thirty overweight women aged 20-65 will take either the blueberry powder or a placebo for six weeks. Researchers will…

This 10-year study will follow 200 people with PKU who are taking or about to start Pegvaliase (Palynziq). Researchers will monitor immune reactions, inflammation, and lab results to better understand long-term safety. The goal is to improve management of side effects like allerg…

This 10-year observational study is following 450 people with PKU who are taking or starting pegvaliase (Palynziq) to monitor long-term safety, especially allergic reactions. Researchers are tracking serious side effects like anaphylaxis, severe joint pain, and low phenylalanine …

This study tests a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants will receive the drug through an IV every two weeks for about a year. The goa…

This early-stage trial tests a new oral drug called NX-2127 in adults with advanced B-cell cancers (like certain leukemias and lymphomas) that have not responded to standard treatments. The drug works by breaking down a protein that helps cancer cells grow. The main goals are to …

This study tests whether a phenylalanine-free diet, similar to that used for a rare genetic condition, can safely lower high blood phenylalanine levels in critically ill adults in the ICU. High phenylalanine in these patients is linked to a higher risk of death and brain problems…

This study tests a new gene-editing treatment called BEAM-302 for adults with Alpha-1 antitrypsin deficiency, a genetic condition that can cause lung and liver disease. The therapy is given as an infusion and aims to correct the faulty gene. The trial will enroll 106 people to ch…

This study tests a program to help blood donors who have familial hypercholesterolemia (a genetic condition causing very high cholesterol) get proper treatment. One hundred participants will either receive standard notification about their condition or a bundle of extra support, …

This study tests a two-step transplant for children with type 1 diabetes who also have an immune deficiency. First, they receive umbilical cord blood stem cells to rebuild their immune system. Then, if that works well, they get a transplant of insulin-producing islet cells. The g…

This study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …

This study tests a digital health program called Corrie Lipids in about 1,000 adults with high LDL cholesterol and heart disease risk. The program includes a smartphone app for tracking cholesterol, medication reminders, and education, plus training for doctors to improve cholest…

This study tests whether giving oral zinc sulfate and ursodeoxycholic acid alongside standard light therapy can help clear jaundice faster in newborns. About 80 babies with non-hemolytic jaundice will receive one of two doses of zinc, or the liver drug UDCA, plus phototherapy. Th…

This early-phase trial is testing a new drug called DCSZ11 alongside standard chemotherapy or immunotherapy in 9 people with advanced or metastatic solid tumors, including head and neck cancer. The main goal is to see if the combination is safe and whether it can shrink tumors. B…

This phase 2 trial is testing whether epcoritamab, a type of antibody, can help people with Waldenstrom Macroglobulinemia (a rare blood cancer) who have already received treatment. The study will enroll 20 participants and measure how many respond to the drug. Epcoritamab is give…

This study looks at how safe and effective primaquine is for treating vivax malaria in people with intermediate or deficient G6PD enzyme levels. About 100 adults with confirmed malaria and G6PD deficiency will receive either a high daily dose or a weekly dose of primaquine. The g…

This study follows 15 adults (ages 22–90) with severe, long-term balance disorders caused by inner ear damage. Participants have already received a vestibular implant, a device that electrically stimulates the balance nerve to help restore steadiness and clear vision during movem…

This study looks at whether drinking cranberry juice for 12 weeks can help overweight or obese adults improve blood sugar, insulin levels, cholesterol, and gut health. About 73 participants will be randomly assigned to receive either a cranberry drink or a placebo, then switch af…

This study tests a program called PILI 'Āina that helps Native Hawaiians manage type 2 diabetes, high blood pressure, high cholesterol, and overweight. About 1,780 adults will take part in cooking demonstrations and learn how to eat more traditional Hawaiian foods. The goal is to…

This study tests a program called PILI 'Āina that combines lifestyle lessons, home gardens, and cooking classes to help Native Hawaiians manage type 2 diabetes, high blood pressure, and obesity. About 210 overweight or obese Native Hawaiian adults with these conditions will take …

This study looks at whether a structured approach to managing heart disease risk factors (like high blood pressure, diabetes, and smoking) can improve health outcomes in adults. Researchers will follow 220 patients in a regular cardiology clinic, collecting data on their blood pr…

This study tests whether taking a combination of Akkermansia muciniphila (a beneficial gut bacterium) and berberine (a plant compound) can improve insulin sensitivity in night-shift workers. 200 participants from healthcare and industry in Austria and Denmark will receive either …

This study at Mayo Clinic looks at how often high blood pressure happens in patients with certain blood cancers (like CLL or lymphoma) who are taking a type of targeted drug called a BTK inhibitor. It will track 100 patients over a year to see if managing blood pressure well can …

This early-phase trial tests whether a patient's own immune cells, engineered to target BCMA and/or CD19, can calm severe ulcerative colitis that hasn't responded to other treatments. Twelve adults with moderate-to-severe active disease will receive a single infusion of these CAR…

This study tests a gene therapy called EXG110 in 12 people with Fabry disease. The therapy uses a harmless virus to deliver a working gene that may help the body produce a missing enzyme. The main goal is to check safety and find the right dose, while also looking at how it affec…

This expanded access program offers a stem cell transplant using donor cells that have been specially processed to remove certain immune cells, reducing the risk of graft-versus-host disease. It is for patients with serious blood disorders, immune deficiencies, or metabolic disea…

This study tests a device called PTeye™ that uses near-infrared light to help surgeons see and protect tiny parathyroid glands during total thyroid removal. About 210 adults in Hong Kong will be randomly assigned to standard surgery or PTeye™-assisted surgery. The goal is to see …

This early-phase trial is testing a new drug called 177Lu-RAD204, which is a radioactive antibody designed to seek out and destroy cancer cells that have a protein called PD-L1 on their surface. The study will involve 30 adults with advanced solid tumors (like lung, breast, or sk…

This early-phase study is testing an experimental oral drug called LP-168 in about 60 people with several types of B-cell blood cancers that have come back or not responded to prior treatments. The main goals are to find the safest dose and to see how the drug behaves in the body…

This observational study is testing whether a combination of non-invasive measurements—including blood pressure monitoring, ultrasound, blood and urine tests, and a light-based technique called photoplethysmography—can detect early damage to blood vessels and organs in adults at …

This study explores whether MRI scans can safely and accurately detect cancerous or precancerous mouth lesions in people with Fanconi Anemia, a rare genetic condition that raises cancer risk. Researchers will compare MRI results to standard biopsies in 80 adult participants. If s…

This study looks at whether taking a small piece of ligament during routine carpal tunnel surgery can help diagnose transthyretin amyloidosis, a serious condition that often goes unnoticed until it affects the heart. Researchers will compare this new biopsy method to the standard…

This study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…

This study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…

This study tests whether a special PET scan using a radioactive tracer called FDOPA can accurately find and locate focal lesions in the pancreas of infants with congenital hyperinsulinism, a condition causing severe low blood sugar. The goal is to help surgeons remove only the di…

This study is testing a non-invasive eye camera that takes pictures of the retina using different colors of light. Researchers want to see if these images can help detect signs of Alzheimer's, Parkinson's, and other neurodegenerative diseases. About 930 adults over age 30 with or…

This study is testing a new blood test to help doctors diagnose Parkinson's disease and similar brain disorders more accurately and earlier. Researchers will use a technique called RT-QuIC to detect misfolded proteins in blood samples from 458 participants, including healthy peop…

This study will screen 13,000 children in China using urine tests and ultrasound to find kidney disease early. The goal is to see how common kidney problems are in kids and to build a system to predict who is at risk. Children with abnormal results will be referred for further ca…

This study is testing a blood test (called a liquid biopsy) to see if it can find colorectal cancer, pre-cancerous growths (adenomas), and cancers linked to Lynch syndrome at an early stage. Researchers will enroll 1,200 people who have already had a colonoscopy. The goal is to s…

This study tests whether adding a short interpretive comment to blood test results for high cholesterol can encourage doctors to refer more patients to specialized lipid clinics. The goal is to increase detection of familial hypercholesterolemia, a common inherited condition that…

This study is testing a small device called a nanosensor that measures oxygen levels in muscle tissue. The goal is to see if it can accurately assess mitochondrial function in people with mitochondrial myopathy compared to healthy volunteers. If it works, this sensor could become…

This study aims to screen 300 children aged 2 to 18 for familial hypercholesterolemia, a genetic condition that causes very high cholesterol and greatly increases heart disease risk in adulthood. A small blood sample is taken after fasting to measure cholesterol levels. The goal …

This trial tests whether a home-based program, led by a bilingual community health worker, can improve the diet quality of preschool-aged children in low-income Hispanic families. Parents receive coaching visits, phone calls, and text messages over six months, focusing on healthy…

This phase 3 trial tests whether acoramidis can prevent or delay transthyretin amyloidosis (ATTR) in 587 adults who carry a faulty gene but have no symptoms yet. ATTR causes sticky plaques to build up in the heart and nerves, leading to heart failure and nerve damage. Acoramidis …

This study tests whether the drug semaglutide can prevent type 2 diabetes in women who had gestational diabetes and now have high blood sugar after pregnancy. About 252 women will receive either semaglutide or a placebo for several months. The goal is to see if the drug lowers th…

This study is testing whether a home-based screening kit can identify hidden heart risks better than standard doctor visits. 45,000 adults in Sweden aged 50-75 will either receive a home blood pressure monitor, a finger-prick blood test, and a health questionnaire, or continue wi…

This study tests a 3-year lifestyle program for 1,305 Brazilian adults at high risk for type 2 diabetes. The program combines in-person and online counseling on diet, exercise, sleep, and stress. Researchers will track who develops diabetes and measure weight, blood sugar, and qu…

This study tests whether a natural bile acid called 7-Ketolithocholic Acid, taken as a supplement, can lower blood sugar levels in 100 adults with prediabetes. Participants will also follow a healthy diet and exercise plan. The goal is to see if this supplement can help prevent o…

This study tests if a daily probiotic powder can prevent or reduce weight gain, high blood sugar, and high cholesterol caused by certain antipsychotic drugs. About 112 adults starting or recently starting olanzapine, quetiapine, risperidone, or clozapine will take either the prob…

This study looks at whether taking a daily supplement made from artichoke by-products, combined with a calorie-controlled Mediterranean diet, can help prevent type 2 diabetes in people who are overweight or obese. Researchers will measure changes in insulin resistance and weight …

This study tests a cream called roflumilast 0.15% for itching in people with mild to moderate atopic dermatitis (eczema). About 40 participants aged 12 and older will apply the cream once daily for 4 weeks. Researchers will track how patients describe their itch and other skin se…

This trial tests a short, child-friendly psychoeducation program called Education & Care in RARE for children and teens aged 5–20 with any rare disease. The program uses simple, resource-oriented materials to teach kids about their condition and build coping skills. Researchers w…

This study looks at whether eating a small handful of almonds (about 18 grams) 30 minutes before a meal can reduce the rise in blood sugar after eating. Researchers will test 25 adults with prediabetes, comparing blood sugar levels after meals with and without almonds. They also …

This study tests a personalized program combining exercise and nutrition advice to help reduce fatigue in people with indolent (slow-growing) lymphomas, such as chronic lymphocytic leukemia and follicular lymphoma. Participants receive an individualized exercise plan and dietary …

This study tests whether cannabidiol (CBD) can safely improve behavior, mood, sleep, and daily function in people with Sanfilippo syndrome, a rare genetic disorder. Thirty-five participants will receive either CBD or a placebo, then switch after a break. Caregivers will report on…

This study tests whether a personalized mix of endurance and strength exercises, done at home with video check-ins, can improve mobility and muscle strength in people with mitochondrial myopathy. Fifteen adults with confirmed genetic mutations will follow the program for up to 12…

This study tests whether a personalized facial rehabilitation program can help people with systemic sclerosis who have facial tightness and mouth problems. About 60 adults with this rare autoimmune disease will either receive the rehab program or standard care. The goal is to see…

This study is testing whether hypnosis can lower anxiety in people having facial surgery under local anesthesia. Sixty-six adults who are at least mildly anxious will either get standard care or extra hypnosis support. Researchers will measure anxiety levels before and after surg…

This study tests whether playing Kho-Kho, a traditional Indian tag game, can improve agility and reaction time in school children aged 8 to 12. Over 6 weeks, 48 kids will either play Kho-Kho or do free play three times a week. Researchers will measure changes in agility and react…

This study tests whether low-energy shock wave therapy, a non-invasive treatment, can improve overactive bladder symptoms in women who also have metabolic syndrome. Sixty women will receive either the real therapy or a sham procedure. Researchers will track symptom changes using …

This study looks at whether a ketone ester supplement can improve heart function and exercise ability in people with type 2 diabetes. About 30 adults will take either the supplement or a placebo and undergo heart scans and fitness tests. The goal is to see if this simple drink ca…

This study compares two common conservative treatments for De Quervain's tenosynovitis, a painful thumb tendon condition: a static hand-wrist splint versus home-based exercise therapy. Forty adults with acute or subacute pain will be tracked for changes in pain, wrist function, a…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study tests whether custom-made 3D-printed masks fit children better than standard commercial masks for non-invasive ventilation (NIV). Fifteen children aged 8-12 who already use NIV but have poor adherence will try a custom mask made from a 3D facial scan. Researchers will …

This study tests whether quercetin, a natural supplement found in foods like onions and apples, can improve blood pressure and body fat in healthy adults. Researchers will give 40 participants either quercetin or a placebo for a set period. The goal is to see if this simple dieta…

This study looks at whether the Alexander technique, a method that teaches better posture and movement habits, can help children aged 5 to 9 with Duchenne muscular dystrophy control their upper limbs and feel better day-to-day. About 33 kids will take part, and researchers will m…

This study tests whether sensory exercises can improve repetitive behaviors, communication, social interaction, and motor skills in children with autism. About 26 children aged 5 to 11 will take part. Researchers will measure changes using standard questionnaires before and after…

This study tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

This study looks at anxiety related to cancer screenings in adults with Fanconi anemia, a rare condition that raises cancer risk. Researchers will observe 20 participants during their regular screening visits, noting body language, worries, and the clinic environment. No treatmen…

This study follows up to 30 children (up to age 16) with a rare genetic condition called methylmalonic acidemia (MMA), which affects how the body processes food. The goal is to observe how the disease progresses over time by tracking specific blood tests and health signs. This in…

This study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…

This study looks at whether liver function and blood clotting tests can help doctors better understand and monitor cardiac transthyretin amyloidosis (ATTR-CA), a condition where abnormal protein builds up in the heart. Researchers will compare these tests in people with ATTR-CA a…

This study looks at how medium-chain and long-chain fatty acids affect metabolism in people with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and healthy individuals. Researchers will measure ketone bodies, resting metabolic rate, and other factors after participants co…

This study investigates how Fabry disease damages the kidneys over time, even before routine tests show problems. Researchers will examine kidney biopsies and function in 50 patients, some of whom receive enzyme replacement therapy. They aim to see if starting treatment earlier o…

This study looks at the long-term health of people who were cured of Cushing disease before age 21. Researchers want to understand how past high cortisol levels affect the body and mind years later. Participants will complete surveys and have check-ups every 5 years. The goal is …

This early-stage trial is testing how the experimental drug repinatrabit interacts with several common medications, including birth control pills, metformin, and methotrexate. The study involves 48 healthy volunteers and will measure drug levels in the blood to see if combining t…

This study looks at how the body processes repinatrabit (JNT-517), an oral tablet for phenylketonuria, in people with moderate liver impairment or severe kidney impairment. It compares these results to those from healthy volunteers of similar age, weight, and sex. The goal is to …

This study follows 30 people with Gaucher disease who are receiving standard medical care to better understand how the condition affects the lungs, bones, and nervous system over time. Researchers will track changes in breathing, bone density, and neurological signs, along with b…

This study is building a large international registry of people with Wilson's disease, a rare genetic condition that causes copper to build up in the body. Researchers will collect data from routine clinic visits over several years to describe the natural course of the disease in…

This observational study will analyze medical records from over 52,000 people with ATTR amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers want to learn about patients' symptoms, treatments, and outcomes in everyday medical practice. No new treatm…

This study looks at whether adding certain nutrients to blood cells from people with septic shock can help restore the cells' energy-making machinery (mitochondria). Researchers will collect blood samples from 55 patients in the ICU and test these nutrients in the lab. The goal i…

This study is looking at whether advanced heart imaging, especially cardiac MRI, can help identify the cause of cardiomyopathy and predict risks like death or heart failure in a diverse group of patients. The research focuses on adults in the Bronx, including many from Hispanic a…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study aims to find out whether some women diagnosed with polycystic ovary syndrome (PCOS) actually have a rare genetic condition causing severe insulin resistance. Researchers will compare 25 women with a known LMNA gene mutation (linked to lipodystrophy) to 50 women with cl…

This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…

This study follows people with rare inherited forms of kidney stones and chronic kidney disease, such as primary hyperoxaluria, cystinuria, and Dent disease, to learn how these conditions develop over time. Researchers will measure markers of inflammation in blood and urine and t…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This study watches people with blood cancers like CLL who take BTK inhibitors or venetoclax to see how these drugs affect heart rhythm. Researchers will use EKGs, stress tests, and heart monitors to track abnormal rhythms and sudden death risk. The goal is to better understand an…

This study looks at how the body's innate immune system responds to certain environmental exposures by measuring inflammation markers in blood. Researchers will collect blood samples from up to 725 healthy volunteers aged 18-45 to analyze how specific genes and proteins react. Th…

This study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

This study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…

This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…

This study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…

This study follows 130 adults with hypophosphatasia, a rare bone disorder, to understand how they are diagnosed and what symptoms they have. Researchers hope to find ways to reduce the long delay between first symptoms and diagnosis. No treatment is being tested; this is purely a…

This study tracks the natural course of fucosidosis, a rare genetic disorder, in up to 57 people. It collects medical history and ongoing health data without giving any experimental treatment. The goal is to better understand the disease and help design future therapies.

This study looks at how well vaccines for flu, COVID-19, shingles, hepatitis B, and pneumonia work in people with certain blood cancers like chronic lymphocytic leukemia (CLL) and non-Hodgkin lymphomas. Researchers will measure immune responses through blood samples before and af…

This study uses a special MRI technique called magnetic resonance spectroscopy to measure brain chemicals in adults with Type 3 Gaucher disease. The goal is to find markers that show how the disease affects the brain and how it responds to treatment. About 5 participants aged 18 …

This study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full rang…

This natural history study aims to gather information from up to 3,000 people with genetic conditions that cause too much androgen (male-like hormones), such as congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Participants undergo various …

This study follows up to 3,000 people who have, are at risk for, or are related to someone with a parathyroid disorder. Researchers will collect medical records, questionnaires, and samples like blood and saliva to learn what causes these conditions and how they change over time.…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…

This study uses a brain imaging technique called functional near-infrared spectroscopy (fNIRS) to observe brain activity in people with urea cycle disorder (UCD) while they perform driving tasks of varying difficulty. Researchers compare these brain patterns to those of healthy v…

This study follows 250 people newly diagnosed with HIV and 161 healthy volunteers over five years to see who develops metabolic fatty liver disease (MASLD). Researchers use annual blood tests, ultrasounds, and FibroScans to measure liver fat and stiffness. The goal is to uncover …

This study looks at how mental state, emotional eating, and sleep quality together influence the risk of metabolic syndrome (a cluster of conditions like high blood pressure and blood sugar) in people with schizophrenia or bipolar disorder. Researchers will measure these factors …

This observational study examines how a phenylalanine-restricted diet and PKU medications like sapropterin influence the gut microbiome in children aged 3-17. Researchers will compare stool samples from children with PKU and their healthy siblings to see if diet or drugs alter gu…

This pilot study investigates whether regularly chewing a hard gum for four weeks can produce measurable changes in facial shape. Twenty healthy adults aged 20 to 40 will chew a standardized hard gum every other day, and researchers will use 3D facial imaging to track any shifts …

This study investigates whether a person's glycolytic power — how efficiently their body uses sugar for quick energy — can predict muscle growth from resistance training. Healthy adults who have not done structured weight lifting in the past year will take a 10-second all-out cyc…

This study investigates whether gut bacteria and the chemicals they produce influence inflammation in people with autoinflammatory diseases such as FMF, CAPS, and MKD. Researchers will analyze stool and blood samples from 300 patients to measure gut-derived metabolites and assess…

This study follows 400 people with mitochondrial disease and their household members to learn how infections affect them. Researchers will analyze blood samples and health records to find immune patterns linked to severe illness. The goal is to improve care and identify potential…

This study investigates how acetaldehyde, a byproduct of alcohol, affects cells in the mouth and whether it may increase oral cancer risk. Healthy volunteers and individuals with Fanconi anemia (a condition linked to higher cancer risk) will consume a single dose of alcohol and p…

This study creates a biobank of blood, urine, and tissue samples from people with rare kidney stone diseases—primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease—and their family members. By storing these samples, researchers hope to enable future studies that cou…

This study screens children and adolescents aged 5 to 18 who have chronic conditions like congenital heart disease, inflammatory bowel disease, celiac disease, or rheumatic diseases for lipid metabolism disorders. Participants provide a blood sample and complete a questionnaire a…

This study follows people with congenital disorders of glycosylation (CDG) — rare genetic conditions that affect how the body builds sugar chains on proteins. Researchers aim to track how the disease progresses over time, including its impact on organs and thinking abilities. By …

This study aims to create a prediction tool for people with emphysema caused by alpha-1-antitrypsin deficiency, a rare genetic disorder. Researchers will analyze clinical data, lab results, and lung CT scans from 230 patients to identify those at highest risk of death or needing …

This study builds a global database of people diagnosed with or at risk for Krabbe disease, a rare nerve disorder. Researchers will track symptoms, genetic mutations, and enzyme levels to find clues that predict when the disease starts and how severe it becomes. The registry also…

This study will look at how consistently nearly 6,000 adults in Italy take three newer cholesterol-lowering drugs (inclisiran, evolocumab, and alirocumab) over the long term. Researchers will analyze prescription records to measure adherence and persistence in everyday medical pr…

This study investigates whether people with phenylketonuria (PKU) are more likely to develop eating disorders and obesity due to their restrictive, high-carbohydrate diet. Researchers will examine 70 PKU patients to understand the link between diet, eating behaviors, and weight. …

This study collects medical information from people around the world who have one of four rare hereditary kidney stone diseases: primary hyperoxaluria, Dent disease, cystinuria, or APRT deficiency. By gathering data from many patients, researchers hope to better understand how th…

This study is a national registry in Hungary that collects medical information from people diagnosed with systemic amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will look at patient records to understand how the disease starts, how it is diag…

This study looks at how well people with Anderson-Fabry disease can exercise and how their hearts respond to stress. Researchers will use treadmill tests, echocardiograms, and heart scans to measure heart function during rest and exercise. The goal is to find better ways to detec…

This study reviews 10 years of medical records from 600 adults who had thyroid surgery at Minia University Hospital. The goal is to find out which patients are most likely to develop low calcium levels after surgery, a common complication. By identifying key risk factors, doctors…

This research study creates a registry of older adults with cancer to collect information about their health, treatments, and outcomes. Participants complete a geriatric assessment and allow researchers to follow their medical records. The goal is to better understand how cancer …

This study follows people who previously took part in type 1 diabetes trials to see how long their bodies continue to produce insulin. Researchers will also look at how immune system changes relate to insulin production. The goal is to gather information that could lead to better…

This study looks at whether childhood trauma is linked to changes in stress hormones and inflammation in obese women. Researchers will measure cortisol levels in saliva and urine, along with other markers, in 102 women. The goal is to better understand how past experiences might …

This study looks at gum disease in people with rare kidney disorders like Alport syndrome, Fabry disease, and tuberous sclerosis, as well as lupus. Researchers will compare 100 participants to those with chronic kidney disease and healthy controls. They aim to understand how comm…

This study is looking for early signs of heart amyloidosis in Black adults who carry a specific gene change (V122I TTR) that raises their risk. Researchers will use heart MRI scans and blood tests to detect protein buildup before symptoms appear. The goal is to find ways to diagn…

This study follows 300 adults aged 30–60 with genetically confirmed familial hypercholesterolemia, a condition causing very high cholesterol. Researchers use CT scans to see how coronary artery plaques change over 5 years. The goal is to better understand disease progression and …

This study aims to find the best way to deliver preventive health screenings to people in underserved and rural areas. It will compare different methods, such as interactive health reports, mobile screening units, and even droid-assisted screenings, to see which improves health e…

This study is observing 40 adults with multiple sclerosis to see how clinical tests of balance and walking relate to detailed motion-capture measurements. Participants will attend one session where they walk on force plates and perform balance tasks while cameras track their move…

This study looks at how parents and doctors handle the moment a newborn is diagnosed with phenylketonuria (PKU) through routine screening. Researchers will interview 80 parents and medical staff to understand the emotional impact and find ways to improve how the diagnosis is shar…

This study aims to better understand how Pompe disease affects the nerves and muscles involved in breathing. Researchers will analyze nerve conduction and diaphragm activity in 20 adults with Pompe disease or unexplained respiratory failure. The goal is to identify patterns that …

This study looks at what happens when adults with metabolic syndrome stop taking their usual metformin medication for 14 days. Researchers want to see if a short break affects insulin sensitivity, blood sugar levels, and other health markers. Participants will be randomly assigne…

This study creates a registry for people diagnosed with Wilson disease, a rare genetic condition that causes copper buildup in the body. Researchers will collect medical data and biological samples over time to help future studies improve diagnosis and treatment monitoring. The g…

This study examines the medical records of 400 people diagnosed with various types of lymphoma at a French hospital between 1999 and 2018. Researchers want to see how long patients survived and whether the care they received matched what medical guidelines recommend. The goal is …

This study looks at whether personality traits are linked to routine lab test results in 1,000 adults getting a health check-up. Participants fill out a personality questionnaire and provide blood samples. The goal is to see if certain personality types are more likely to have ab…

This study tracks 180 orthopedic patients in Cyprus to see if a single doctor visit changes how much they trust AI health information. Patients fill out surveys before and after their appointment, and doctors also report on the accuracy of any AI advice patients brought up. The g…

This observational study will enroll up to one million adults to understand how health, environment, and lifestyle affect aging and disease. Researchers will link participants' clinical data with information from public records, such as pollution and social factors, to create a d…

This study gives 200 athletes either high-dose vitamin D3 (4,000 IU daily) or a placebo for 4 to 8 weeks. Researchers measure changes in vitamin D levels, hormones, muscle function, cognitive performance, and body composition. The goal is to see if extra vitamin D improves athlet…

This observational study looks at whether taking raw cornstarch with meals helps control blood sugar in adults with glycogen storage disease type I (GSD I). Eight participants will wear continuous glucose monitors and keep food diaries for two weeks. Researchers will compare bloo…

This study will follow 1,000,000 adults aged 18 and older for the rest of their lives. Researchers will collect health measurements and track who develops diseases, becomes frail, or dies. The goal is to find which tests best predict how well people age, so doctors can one day of…

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study investigates how exercise affects the structure and function of fat tissue in adults aged 18-40 with obesity or metabolic syndrome. Participants are randomly assigned to either an exercise program or a sedentary control group. All undergo a 10% weight loss phase, then …

This study gathers medical information from people with MNGIE, a rare genetic disease that affects the nerves and digestive system. Researchers want to learn how the disease progresses and find better ways to measure it. Up to 50 patients worldwide can join, and no new treatments…

This study aims to develop a better way to measure how the brain uses sugar (glucose) for energy. Researchers will use advanced MRI-like scans at 3 or 7 Tesla strength in 20 healthy volunteers and people with Glut1 deficiency, a rare condition that affects brain fuel. Participant…

This study looks back at 483 patients who had small rectal neuroendocrine tumors (less than 2 cm) removed using one of two endoscopic techniques: endoscopic submucosal dissection (ESD) or endoscopic partial muscle resection (EPMR). The goal is to compare how often each method lea…

This study aims to find out if people who get calcium oxalate kidney stones absorb more oxalate from food than healthy people. Researchers will compare stone formers and healthy volunteers by having them eat special diets and measuring oxalate in urine, blood, and stool. The goal…

This study looks at whether giving tube feedings during the day instead of at night can improve sleep and body rhythms in patients recovering from heart surgery in the ICU. Researchers will monitor sleep patterns and body temperature in 30 adults. The goal is to learn if simple c…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study looks at what happens when people sleep only a few hours on weekdays but catch up on weekends. Researchers want to see if this pattern harms blood sugar, blood pressure, and body fat compared to getting enough sleep every night. The study involves 72 adults aged 18 to …

This study looks at genetic and chemical markers in fat tissue from 500 people with severe obesity who are having weight-loss surgery. Researchers collect a small amount of belly fat during the operation and take blood samples afterward. The goal is to understand why some patient…

This study uses a quick, painless eye scan (OCT) to see if blood vessels in the eye look different in people with high blood pressure or chronic kidney disease compared to healthy people. Researchers want to learn if these differences improve with treatment. About 150 adults aged…

This study is for children with Morquio A, a rare genetic disease that affects bones and breathing. Researchers will use safe, non-invasive tests like MRI, X-rays, hearing tests, and walking analysis to track how the disease changes over time. The goal is to better understand the…

This study aims to screen 15,000 children aged 1-3 and their parents for familial hypercholesterolemia, a genetic condition that causes very high cholesterol and early heart disease. Researchers will use a simple finger-prick blood test to measure cholesterol and check for specif…

This study looks at whether adults with glycogen storage disease type I (GSDI) can safely include more fructose and galactose in their diet. Currently, patients must avoid these sugars, which limits food choices. Researchers will give 20 adults either fructose alone or fructose p…

This study is recruiting 8,000 young Chinese adults with obesity (BMI 30 or higher) to investigate how genes and clinical features contribute to obesity and metabolic syndrome. Researchers aim to better understand the underlying causes, which could eventually lead to improved tre…

This study looks at how common tooth staining is in children who had very high bilirubin levels (jaundice) early in life. Researchers will check 120 children with certain liver conditions to see if their teeth are discolored and whether that affects their daily life. The goal is …

This study follows 30 children and young adults with Sanfilippo syndrome type C, a rare genetic disorder that causes severe brain damage. Researchers will measure changes in development and thinking skills over time using standard tests. The goal is to better understand how the d…

This study is a national registry for people with adrenoleukodystrophy (ALD), a rare genetic disorder. Researchers will collect medical records and survey data from up to 1,000 patients and their families over time to understand how the disease progresses. The goal is to find bet…

This study looks at how a person's natural sleep pattern (chronotype) affects their body's ability to handle sugar. Researchers will compare blood sugar and insulin responses in 70 overweight young adults (ages 18-23) who are either night owls or early birds. Participants will ta…

This study looks at two blood inflammation markers, SII and SIRI, to see if they can help predict metabolic problems like insulin resistance and fatty liver in people who are overweight or have obesity. Researchers will follow 200 adults for up to 3 years, tracking their diet, la…

This study looks at whether a special camp that teaches teens and young women with PKU or MSUD about their condition and nutrition can improve their pregnancy outcomes and quality of life. Researchers will compare the results of women who attended the camp to those who did not. T…

This study looks at the safety of a special blood test system used to measure arginine levels in people with ARG1 deficiency who are taking the drug Loargys. The test system includes special blood collection tubes that stop the drug from breaking down arginine after the sample is…

This study looks at how different sources of protein (animal vs. plant, and whole foods vs. protein powders) affect blood sugar control and insulin sensitivity in people with metabolic syndrome. Researchers will measure blood sugar levels over 24 hours and use a special test to s…

This observational study is gathering information on how erythropoietic protoporphyria (EPP) and X-linked porphyria (XLP) affect people aged 12 and older. Over 6 months, researchers will track symptoms, light exposure, and blood levels of protoporphyrin IX (PPIX) in 50 participan…

This study looks at whether a structured goal-setting program can help people with chronic conditions like high blood pressure, diabetes, or high cholesterol adopt healthier behaviors. Researchers will compare 600 participants who receive the program to those who get usual care. …

This study follows 2,500 adults aged 30-75 in Puerto Rico to track chronic diseases like heart disease, diabetes, and obesity. Researchers will collect data on diet, stress, and lifestyle over two years to identify trends and risk factors. The goal is to guide public health prior…

This study gathers medical information from 200 people with glycogen branching enzyme deficiency, known as GSD IV or APBD. The goal is to learn how these rare diseases progress over time. No new treatments are tested; instead, researchers review clinic records to better understan…

This study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…

This study looks at how genes and body chemistry are linked in adults with phenylketonuria (PKU) who were treated early in life. Researchers will analyze blood and saliva samples from 149 participants to find patterns that may explain differences in health and thinking skills. No…

This study creates a Canadian registry for children under 18 with Alagille syndrome or genetic intrahepatic cholestasis, rare liver conditions that cause bile buildup. Researchers will collect health data from medical records over time to understand how these diseases progress an…

This study looks at how fasting insulin and insulin resistance differ based on age, sex, race/ethnicity, body weight, and PCOS diagnosis. Researchers will analyze data from 150 adults to find patterns that may explain why some groups face higher metabolic risks. The goal is to be…

This study tests whether people with prediabetes and obesity change their eating and activity habits when they can see their glucose levels in real time versus when the data is hidden. Thirty-four adults will wear a continuous glucose monitor during both an open and a blinded pha…

This study aims to find early signs of Parkinson's disease in people who carry a change in the GBA1 gene, which puts them at higher risk. Researchers will use simple, non-invasive tests to check for subtle changes in movement, thinking, sleep, and other functions that can appear …

This study will track 1,200 adults in semi-rural Tanzania to find out how common chronic kidney disease (CKD) is and what factors increase the risk. Participants will have blood and urine tests at the start, after 90 days, and again after one year. The goal is to create better wa…

This study creates a registry to collect real-world information on the safety and effectiveness of ambroxol, a common cough medicine, when used at higher doses for Gaucher disease or GBA-related Parkinson disease. Researchers aim to gather data from 300 patients worldwide who are…

This study looks at whether brain wave tests (EEG) done before and after heart surgery in babies under 1 year old can predict later learning or behavior problems, such as autism or ADHD. About 50 infants will be followed to age 2. The goal is to find early warning signs so that c…

This study looks at whether repeated eye injections of bevacizumab, a drug used for diabetic eye disease and other conditions, might affect heart health. Researchers will measure certain enzymes in the blood that are linked to heart disease risk. The study includes 180 adults age…

This study looks at 300 people with Lynch syndrome, a genetic condition that raises the risk of colorectal cancer. Researchers want to understand why some patients still develop cancer even with regular check-ups. They will analyze blood, gut bacteria, and hair samples to find cl…

This study looks at how the body's cells use oxygen in people with long COVID compared to those fully recovered. Researchers will measure oxygen use in blood cells, skin, and muscle to see if there are differences. The goal is to better understand long COVID and test if these mea…

This study aims to find biological markers in the blood that may help explain brain development disorders like autism, epilepsy, and brain tumors. Researchers will compare children with and without these conditions to identify unique patterns. Up to 500 children will participate …

This study looks at whether giving mothers in Brazil an extra $40 per month (compared to just $2) can protect their children's brain development and mental health. About 450 children aged 7-10 from low-income families will be followed for 2 years. Researchers will measure stress,…

This study follows 500 adults (400 with mitochondrial disease and 100 healthy or other-disease controls) for up to 10 years. Researchers collect medical data and samples to create a biobank, aiming to better understand how the disease progresses and to find ways to diagnose it ea…

This study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…

This study looks at what happens inside your fat tissue when you lose weight with or without exercise. 68 adults with obesity will lose 10% of their body weight through diet, with some also doing moderate exercise. Researchers will measure insulin sensitivity, fat breakdown, and …

This study is testing whether a special type of cardiac MRI can find early signs of heart damage in people with Fabry disease. Researchers will follow 300 adults with Fabry disease over time, using MRI, ECG, and blood tests to see which patients later develop serious heart proble…

This study follows 1,000 people who are having weight-loss (bariatric) surgery. Researchers will measure changes in weight, body fat, blood sugar, cholesterol, and other health markers before surgery and at several follow-up visits over two years. The goal is to better understand…

This study looks at how different meals before exercise affect amino acid levels in adults with phenylketonuria (PKU). Ten participants will try water, carbohydrates, or protein before doing aerobic and resistance exercises. Researchers will measure changes in blood amino acids t…

This study aims to find genetic mutations that cause spontaneous coronary artery dissection (SCAD), a condition where arteries in the heart tear without warning. Researchers will analyze DNA from 2000 people diagnosed with SCAD, as well as their relatives. The goal is to identify…

This study compares two methods of contacting family members for genetic testing after a person is found to have a gene linked to familial hypercholesterolemia or long QT syndrome. In one group, the study team directly contacts relatives; in the other, the person with the gene co…

This study aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop bette…

This study watches 150 adults with heart valve problems who are getting a procedure (TAVI or M-TEER) to see if it helps their sleep-disordered breathing. Participants take a sleep test before the procedure and again 6 months later. The goal is to learn how fixing heart valves mig…

This study looks at how fat tissue changes when people gain weight from overeating. Researchers will ask 58 overweight adults to either maintain their weight or eat 30% more calories for a short time. By tracking fat cell growth and other changes, they hope to understand why some…

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…

This study follows up to 400 children with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to understand which children develop antibodies that block treatment. The goal is to improve…

This study uses the FreeStyle Libre 3 continuous glucose monitor to record blood sugar levels in 2,000 adults, both with and without prediabetes. The goal is to identify patterns that could help spot prediabetes earlier. Participants wear the monitor for a period while going abou…

This study looks at whether routine blood sugar tests (like fasting glucose and HbA1c) can predict gestational diabetes in pregnant women who have had bariatric surgery and cannot tolerate the standard sugary drink test. Researchers will follow 84 women throughout pregnancy to se…

This observational study looks at tiny particles called extracellular vesicles in people with Gaucher disease, carriers, and healthy volunteers. Researchers want to see if these particles differ between groups and if they can help explain brain inflammation linked to the disease.…

This study creates a database of health information and blood samples from up to 60 children and adults with homozygous familial hypercholesterolemia (hoFH), a rare genetic condition causing extremely high cholesterol from birth. Researchers will track participants over time to l…

This study looks at 57 people aged 20 to 70 who carry the Val50Met gene variant linked to hereditary ATTR amyloidosis, a condition that can damage nerves and the heart. Researchers want to describe the different symptoms people experience, such as heart problems, nerve issues, or…

This study is collecting medical data and brain scans from 500 people with cerebral amyloid angiopathy (CAA), a condition that causes bleeding in the brain and memory problems in older adults. Researchers want to better understand how the disease progresses and find markers that …

This small study tests a smartphone app that creates a 'digital twin' of the patient to help manage health after a stroke, moyamoya disease, or cerebral amyloid angiopathy. Twenty adults will either use the app plus standard care, or standard care alone. The goal is to see if pat…

This study is looking at 100 adults with metabolic syndrome to see if those with an H. pylori infection in their stomach have worse insulin resistance (a key driver of diabetes). Researchers will compare blood tests, body measurements, and stomach inflammation between infected an…

This study is creating a large database of 1,000 people with ATTR amyloidosis, a rare disease that causes abnormal protein buildup in organs. Researchers will collect health information over time to better understand how the disease progresses and to develop tools that help docto…

This study looks at how high-frequency 5G waves (27.5 GHz) affect the skin. Researchers will expose healthy volunteers and people with certain skin conditions to these waves and analyze skin cell changes using advanced techniques. The goal is to understand any biological effects,…

This study aims to find early warning signs of heart failure in people with type 2 diabetes and metabolic syndrome by analyzing immune cells from a blood sample. Researchers will compare calcium and inflammation signals in these cells between patients with and without heart probl…

This study is building a registry of 50 people with NCL, a rare and severe brain disorder. Researchers will collect detailed clinical data, biomarkers, and patient-reported outcomes over time. The goal is to better understand the disease's natural history and develop tools that c…

This study is creating a large digital registry to find and understand rare forms of diabetes caused by a single gene (monogenic diabetes). Researchers will enroll up to 5,000 people in China who were diagnosed with diabetes at a young age and test their DNA. The goal is to learn…

This study is checking whether people newly diagnosed with high blood pressure who also have high homocysteine levels are more likely to have early signs of heart stiffness. Researchers will measure homocysteine in blood and use ultrasound to look at heart function in 500 adults.…

This study looks at whether young adults with metabolic syndrome have poorer artery function in the neck, and if a 30-minute bike ride can temporarily improve it. Researchers will compare 48 participants with and without metabolic syndrome. The goal is to understand sex differenc…

This natural history study tracks people aged 10 and older with rare genetic lipid disorders over up to 20 years. Researchers will monitor changes in cholesterol and fat levels, and how these conditions progress. The goal is to better understand these diseases and develop new dia…

This study looks at how fat buildup in the pancreas (pancreatic steatosis) is connected to type 2 diabetes and metabolic syndrome. Researchers will use a special ultrasound technique to measure the fat and see how it relates to the cells that make insulin. The goal is to better u…

This study looks at inflammation markers in the blood of women with PCOS, with or without insulin resistance, and compares them to women without PCOS. The goal is to understand how inflammation relates to metabolic problems in PCOS. Participants will have blood tests but no treat…

This study is collecting health data and blood samples from 100 people with specific types of hereditary spastic paraplegia (SPG4 and SPG5A). The goal is to create a shared database and biobank to better understand how the disease progresses. This information will help prepare fo…

This study is measuring three proteins (kisspeptin, ghrelin, and zonulin) in the blood of women with and without PCOS to see if they can serve as early warning signs of insulin resistance. Researchers will compare levels among three groups: women with PCOS and insulin resistance,…

This study looks at three hormones (leptin, resistin, omentin-1) in women with PCOS, with or without insulin resistance, and compares them to women without PCOS. The goal is to better understand how these hormones relate to metabolic health. No treatments or interventions are giv…

This study follows about 500 people with lipodystrophy (a rare condition where the body loses fat tissue) for 5 to 7 years. Researchers want to find out how often diabetes and very high blood fats (triglycerides) occur, and what health problems they cause. Participants visit once…

This study follows 36 people with type 1 diabetes who have received a pancreatic islet transplant. Researchers will use continuous glucose monitors to see if a measure called 'Time in Tight Range' can detect early loss of graft function. The goal is to find a simple way to spot p…

This study looks at how different amounts of supervised indoor cycling change gut bacteria and related substances in healthy men aged 18 to 45. Participants will be placed into one of three groups: no structured training, moderate cycling, or high-load cycling. Researchers will m…

This study takes a small sample of skin, blood, or urine from people with diabetes and healthy volunteers. Scientists will turn those cells into stem cells and then into insulin-producing cells in the lab. The goal is to learn more about diabetes and pave the way for future cell-…

This 10-year observational registry will follow up to 10 women with Fabry disease who received pegunigalsidase alfa (Elfabrio) around the time of pregnancy or while breastfeeding, along with their infants. Researchers will track pregnancy outcomes, birth defects, and infant healt…

This study looks at newborns who lose too much salt due to rare hormone problems that can be mistaken for a more common condition called congenital adrenal hyperplasia. Researchers want to find out how often these rare conditions happen and describe their symptoms, genetics, and …

This study looks back at the past 10 years to understand how a life-support machine called ECMO has been used in children across China. Researchers will gather information from 500 children, from newborns to 18-year-olds, to see how many survive after treatment, how long they nee…

This study looks at bone marrow stem cells from 50 people with Waldenström macroglobulinemia, a rare blood cancer. Researchers want to see how these cells differ from healthy ones and how they might help the cancer grow. The goal is to better understand the disease, which could l…

This study looks at why having low 'bad' cholesterol (LDL) might actually increase the risk of type 2 diabetes. Researchers think LDL entering fat tissue may cause problems that lead to diabetes. They will test if taking omega-3 fish oil supplements for 6 months can reduce that r…

This study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better…

This study aims to identify different types of familial hypercholesterolemia (FH) in infants and newborns. Expectant parents with FH will provide a cheek swab for genetic testing, and their babies will have 5 blood samples collected over 2 years. The goal is to improve early dete…

This study follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope …

This study aims to learn how Pompe disease affects the brain and nerves over the long term. Researchers will use brain scans, thinking and language tests, and muscle checks in 45 people with Pompe disease. Participants will be followed for 3 to 6 years. No new treatment is being …

This study follows 200 children and adults with hypophosphatasia (HPP), a rare genetic disorder that weakens bones and teeth. Researchers will collect medical history, track disease progression, and assess quality of life over time. The goal is to better understand how HPP affect…

This study is building a large global database of people with familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol and early heart disease. Researchers will analyze data from over 60,000 participants across nearly 60 countries to better understand…

This study follows children and adults with Tay-Sachs, Sandhoff, and GM1 gangliosidosis to understand how these diseases progress. Researchers will measure changes in motor skills, communication, and behavior each year. The goal is to create a clear picture of the diseases so fut…

This study looks at whether portable lactate monitors (like those used at home) give accurate results for people with glycogen storage disease type Ia. Ten participants will have their lactate and glucose levels measured by finger-stick and by standard lab tests. The goal is to s…

This study looks at how exercise training changes muscle cells in people with mitochondrial myopathy, a rare disease that affects energy production. Researchers will compare a trained leg to an untrained leg in the same person, and also compare results with healthy volunteers. Th…

This study is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …

This study looks at whether high blood lactate levels in people with metabolic syndrome cause problems with fat breakdown and blood sugar control. Researchers will raise lactate levels in healthy volunteers using an IV infusion and then measure how their body handles fat and suga…

This study looks at how the drug bulevirtide changes gut bacteria and bile acids in people with hepatitis delta (a serious liver infection). Researchers will follow 20 patients for 48 weeks, collecting stool and blood samples to see how these changes relate to liver health. The g…

This study is creating a national registry of 1,000 people in Spain diagnosed with Waldenström macroglobulinemia or a related condition (IgM-MGUS) over the past 30 years. Researchers will review medical records to understand patient characteristics, treatments, and long-term outc…

This study aims to understand how obesity and aging are connected by looking at blood markers in 650 young and older adults with or without obesity. Participants will provide blood samples and undergo imaging tests to measure biological age and fat distribution. The goal is to la…

This study looks at why diabetes can damage the heart even without clogged arteries. Researchers will examine heart tissue and use advanced imaging in 500 adults with heart failure, with or without type 2 diabetes. The goal is to find early warning signs and new treatment targets…

This study compares fat storage around the heart and liver in people with HIV versus the general population using MRI scans. Researchers aim to understand why HIV-positive individuals have double the risk of heart attacks. The study involves 100 participants aged 40 and older wit…

This study follows 40 men with Fabry disease for three years using a small device implanted under the skin that continuously records heart rhythms. The goal is to see how often dangerous heart rhythm problems occur and how they relate to other changes in the heart and body. No ne…

This study follows 35 people with severe obesity who are having mini-gastric bypass surgery. Researchers want to see how the surgery changes body composition and improves related health issues like type 2 diabetes, sleep apnea, high blood pressure, and fatty liver disease. The go…