Inborn errors of metabolism

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 early-phase study tests a new drug called NX-5948 in adults with advanced B-cell blood cancers (like certain leukemias and lymphomas) that have not responded to other treatments. The drug works by breaking down a protein (BTK) that helps these cancer cells grow. The main goa…

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 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 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 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 program provides early access to the experimental drug venglustat for children and adults with Type 3 Gaucher disease who have brain-related symptoms. Participants must be at least 12 years old, weigh at least 15 kg, and be stable on standard enzyme replacement therapy. The …

This phase II trial is testing whether a combination of venetoclax and rituximab works better than current standard treatments (ibrutinib plus rituximab or zanubrutinib alone) for people with previously untreated Waldenstrom's macroglobulinemia, a rare type of blood cancer. The s…

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 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 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…

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 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 testing the long-term safety and effectiveness of a daily pill called atumelnant for people with classic congenital adrenal hyperplasia (CAH). The drug works by blocking a hormone receptor to help control excess androgen production. Researchers will monitor 150 part…

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 tests whether a daily probiotic called AKM Lab-01 can safely lower cholesterol levels in people with high cholesterol. About 60 adults aged 40-60 will take either the probiotic or a placebo for a period, and researchers will compare changes in their blood cholesterol a…

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 early-stage study tests a new medicine called PYC-001, given as an injection into the eye, for people with a rare genetic eye disease (autosomal dominant optic atrophy) caused by a change in the OPA1 gene. The main goal is to check the safety of different doses and schedules…

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…

This study tests a gene therapy given by IV for ADA-SCID, a rare and life-threatening immune disorder. The treatment uses a modified virus to deliver a working gene, aiming to restore the immune system. Ten participants will be monitored for safety and immune recovery over one ye…

This early-stage trial is testing a new drug called AG-181 in 20 adults with phenylketonuria (PKU), a genetic condition that makes it hard to break down an amino acid called phenylalanine. The main goal is to check if the drug is safe and tolerable. Researchers will also measure …

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 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 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 phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…

This study tests the drug migalastat in 8 children aged 2 to 12 with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe, how it moves through the body, and if it helps protect kidney function. Participants will take the medicine for 12 months.

This study follows 230 children with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC) who are taking Livmarli, a drug to reduce bile buildup and itching. Researchers will monitor side effects, liver function, and long-term outcomes like need for transplan…

This study tests a traditional Chinese medicine called Jiedu Huayu oral prescription in 436 people who have had a brain bleed due to a condition called cerebral amyloid angiopathy. The goal is to see if the herbal treatment can lower the chance of having another stroke or blood v…

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 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 study tests an experimental oral drug called S-606001 in 45 adults with late-onset Pompe disease. Participants take the drug or a placebo on top of their standard enzyme replacement therapy. The main goal is to see if the drug improves lung function and walking ability over …

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 early-phase trial is testing a treatment where a patient's own immune cells are modified in a lab to better recognize and attack cancer cells. It is for people with certain types of Non-Hodgkin lymphoma that have come back or not responded to standard treatments. The main go…

This study tests whether sepiapterin, a powder taken daily, can preserve intelligence and quality of life in children with phenylketonuria (PKU) when started early in childhood. The trial will follow 56 children for years, measuring IQ and other outcomes. It is an open-label phas…

This phase 2 study is testing a time-limited combination of three drugs—pirtobrutinib, venetoclax, and rituximab—in 40 patients newly diagnosed with Waldenström's macroglobulinemia, a rare blood cancer. The goal is to see if this regimen can achieve a very good partial response o…

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 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 study tests an oral drug called nizubaglustat in children and teens with rare genetic disorders (GM1, GM2 gangliosidosis) that damage the brain and nerves. The goal is to see if the drug can slow disease progression and improve movement and coordination. About 75 participant…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This study tests whether computer alerts can help doctors prescribe cholesterol-lowering drugs to people with peripheral artery disease (PAD) who aren't taking them. About 400 adults with PAD will be randomly assigned to have their doctors receive an alert or not. The goal is to …

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 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 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 tests an experimental oral drug, GSK5460025, alone or with other cancer drugs, in adults whose solid tumors have specific genetic changes (dMMR or MSI-H). The goal is to see if the drug can shrink tumors and to check its safety. About 47 people with advanced cancers th…

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 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 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 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 trial tests a one-time gene therapy called UX111 for children with Sanfilippo A, a rare genetic disorder that causes severe brain damage. The therapy delivers a working copy of the missing gene to cells. Researchers will measure whether it reduces harmful substances in the b…

This study tests a new medicine called zodasiran in people aged 12 and older who have a rare genetic condition that causes extremely high cholesterol (homozygous familial hypercholesterolemia). The goal is to see if the drug can safely lower bad cholesterol levels over 12 months.…

This study tests an experimental drug called ALN-APP in 200 adults with cerebral amyloid angiopathy (CAA), a condition that causes bleeding in the brain. The drug is given via spinal injection and aims to slow disease progression and reduce new brain bleeds. Participants will be …

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 study tests whether a specially designed health behavior program can help people with metabolic syndrome and chronic kidney disease reduce their waist size and improve kidney function. Researchers will compare the program to usual care in 160 adults, measuring changes in wai…

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 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 phase 2 trial is testing a combination of three drugs—zanubrutinib, bendamustine, and rituximab—in people with previously untreated Waldenström macroglobulinemia, a rare type of blood cancer. The study will enroll 56 participants to see how well the treatment shrinks or cont…

This study tests whether a program called Sisters for Heart Health can help farmworker women ages 18-50 reduce stress, feel less isolated, and improve their heart health. Participants will join weekly peer support groups led by trained community health workers for 10 weeks. The s…

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 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 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 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 program provides access to two experimental drugs, doxecitine and doxribtimine, for people with thymine kinase 2 deficiency (TK2d), a rare genetic disorder that can cause severe muscle weakness and early death. It is for children and adults who have a confirmed TK2 gene muta…

This study provides unlicensed cord blood units for transplant to children and adults with blood cancers, immune disorders, and other serious diseases. The goal is to see how well patients recover their white blood cells after the transplant. By making more cord blood units avail…

This study offers continued access to the drug ibrutinib for up to 700 people with certain blood cancers (like CLL, lymphoma, and Waldenstrom macroglobulinemia) who are already taking it and benefiting. Researchers will track side effects and how the disease changes over time. Th…

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 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 investigates whether continuous glucose monitor (CGM) data can pinpoint the time of day when a person with prediabetes experiences the largest blood sugar spikes after eating. Participants wear a CGM and activity tracker for 10 days to identify their personal 'vulnerab…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …

This study tests a cancer pill called venetoclax in 14 Japanese adults with a rare blood cancer (Waldenström macroglobulinemia) that has come back or not responded to treatment. Participants take the drug by mouth daily, with doses slowly increased. The main goal is to see how ma…

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 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 single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…

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 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 early-stage study tests a single intravenous dose of a gene therapy called LY3884961 in 15 adults with Gaucher disease type 1. The goal is to see if it is safe and can reduce or replace the need for ongoing enzyme replacement or substrate reduction therapy. Participants must…

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 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 watches children and adults who are already taking or about to start Ilaris for hereditary periodic fever syndromes or systemic juvenile idiopathic arthritis. Researchers will track side effects and how well the drug controls symptoms over 16 weeks. No new medicine is …

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 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 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 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 tests a drug called inclisiran in children aged 6 to 12 who have a genetic condition that causes very high cholesterol. The drug is given as a shot under the skin and aims to lower 'bad' LDL cholesterol. The trial compares inclisiran to a placebo for one year, then eve…

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 looks at the long-term safety of inclisiran, a cholesterol-lowering injection, in children with a genetic condition that causes very high cholesterol. About 195 kids who completed earlier inclisiran studies will receive the drug for an extended period. Researchers will…

This early-stage trial tests an oral drug called BBI-001 for hereditary hemochromatosis, a condition where the body stores too much iron. The study has two parts: one checks safety in healthy volunteers, and the other measures how well the drug controls iron levels in patients. A…

This early-phase trial tests a new treatment called BAFF-R CAR-T for people with B-cell lymphoma that has come back or stopped responding to standard therapy. The treatment uses a patient's own immune cells, modified to find and attack cancer cells carrying a protein called BAFF-…

This study tests a new way of caring for new mothers and their babies together, called MOMI PODS. It focuses on moms who had heart or mental health problems during pregnancy. The goal is to see if this coordinated care model improves health and reduces risks like postpartum depre…

This study tests an experimental drug called fazirsiran in 160 adults with Alpha-1 antitrypsin deficiency who have moderate to severe liver scarring. The goal is to see if fazirsiran can reduce fibrosis and slow disease progression compared to a placebo. Participants will receive…

This study tests whether a lifestyle program can help people with obsessive-compulsive disorder (OCD) become more active and lower their risk for heart disease and diabetes. Researchers will enroll 108 adults with OCD who are not very active. The program focuses on increasing dai…

This study is testing a new hip replacement system called the HIT Reverse Hip Replacement System. It is for people aged 50 to 75 who need a total hip replacement due to arthritis, joint damage, or other conditions. The goal is to see if the new system is as safe and effective as …

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 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 high-dose probiotic (De Simone formulation) can lower bile acid levels in stool and improve diarrhea in people with bile acid malabsorption. Twenty-four adults will take the probiotic or a placebo for about three weeks. Researchers will measure changes …

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 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 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 is testing whether a healthy diet centered around beef can reduce inflammation and improve metabolic health better than a standard U.S.-style diet based on USDA guidelines. Researchers will enroll 56 adults with metabolic syndrome or pre-diabetes and assign them to one…

This study tests whether a targeted lipid optimization program—combining clinic visits and virtual sessions—helps high-risk heart disease patients in Abu Dhabi achieve better LDL cholesterol control. About 326 adults with atherosclerotic cardiovascular disease will be randomly as…

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 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 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 phase 2 trial is testing whether a combination of two drugs, venetoclax and rituximab, works better than standard chemotherapy for people with a rare blood cancer called Waldenström's macroglobulinemia who have not yet been treated. The study aims to see if this chemotherapy…

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 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 tests an experimental oral drug, JNT-517, for adults with phenylketonuria (PKU), a genetic condition that causes harmful buildup of phenylalanine (Phe). About 120 adults will receive either JNT-517 or a placebo for 6 weeks, then all will receive JNT-517 for nearly a ye…

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 study tests an experimental drug called MDX2003 in 180 adults with B-cell lymphomas (like diffuse large B-cell lymphoma or follicular lymphoma) that have returned or stopped responding to at least two prior treatments. The main goals are to find the safest dose and check if …

This study tests a gene therapy called RP-A501 in 14 males with Danon disease, a rare genetic condition that causes heart problems. The treatment uses a harmless virus to deliver a working copy of the LAMP2 gene, aiming to improve heart muscle function and reduce thickening. Part…

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 is testing a drug called glycerol phenylbutyrate in 40 Chinese children with urea cycle disorders, a rare genetic condition that causes dangerous ammonia buildup. The drug aims to help control ammonia levels over 5 years. Researchers will monitor safety and effectivene…

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 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 early-stage trial tests a new gene therapy called KLN-1010 for people with multiple myeloma that has come back or stopped responding to treatment. Instead of removing cells and engineering them in a lab, this therapy works inside the body to create special immune cells that …

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 tests whether adding romosozumab to standard estrogen therapy improves bone density in girls and women aged 14-30 who have stopped menstruating due to intense exercise, stress, or an eating disorder. Participants receive either romosozumab or a placebo for 6 months, pl…

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 tests a drug called encaleret in 28 children (birth to 17 years) with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic condition causing low blood calcium. The goal is to see if the drug can safely raise calcium levels and reduce urinary calcium loss. Part…

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 looks at whether natural estrogen given through a skin patch improves bone strength more than natural estrogen pills or a synthetic birth control patch in women aged 14–30 with functional hypothalamic amenorrhea (missed periods due to stress, low weight, or exercise). …

This study offers expanded access to an experimental stem cell treatment for up to 7 adults with Multiple System Atrophy (MSA), a rare and serious brain disorder. Participants will receive 12 intravenous infusions and 6 spinal injections of donor stem cells over 44 weeks. The goa…

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 Phase 3 trial tests a new injectable drug called IBI306 in 198 Chinese adults with non-familial high cholesterol and mixed high lipids. Participants receive either IBI306 or a placebo every 2 or 4 weeks for 12 weeks. The main goal is to see how much the drug lowers LDL (bad)…

This phase 3 trial tests a single dose of NTLA-2001, a gene-editing therapy, in 60 adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a rare genetic disease that damages nerves. Participants are randomly assigned to receive either the active treatmen…

This early-phase study tests a new treatment called SynKIR-310 for adults with B-cell non-Hodgkin lymphoma that has come back or not responded to at least two prior therapies. The treatment uses a patient's own immune cells, modified to target and attack cancer cells. The main go…

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 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 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 program offers continued treatment with idursulfase-IT (TAK-609), given directly into the spinal fluid, plus standard intravenous Elaprase, for children and adults with Hunter syndrome who have cognitive impairment. It is only open to people who completed earlier studies of …

This study tests an experimental oral drug called Alintegimod (7HP349) combined with two standard immunotherapies (ipilimumab and nivolumab) in people with advanced solid tumors like melanoma, lung, kidney, and liver cancers. The trial has two parts: first, finding a safe dose (p…

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders (LC-FAOD) who have few treatment options and cannot join a clinical trial. The goal is to help manage the disease by providing an alternative energy source for the body…

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 looks at whether treating Helicobacter pylori (Hp), a common stomach infection, can also help improve metabolic syndrome (high blood sugar, cholesterol, and weight). Researchers will give standard Hp treatment alone or with probiotics or berberine to 120 adults. They w…

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 tests a program called LIGHTER-MetS that combines health coaching with an AI-powered app to help people with metabolic syndrome eat better and lower their heart risk. About 316 adults aged 21-65 with metabolic syndrome will join. They will work with a health coach for …

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 study tests a new drug called EIK1005, alone or with another drug (pembrolizumab), in people with advanced solid tumors that have not responded to other treatments. The goal is to find a safe dose and see if the drug shrinks tumors. About 160 adults with certain cancer types…

This program provides expanded access to Mepsevii for people with MPS VII (Sly Syndrome) who have no other treatment options. It is designed for individual patients on a case-by-case basis. The goal is to offer a potential treatment when no alternatives exist.

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 taking a daily probiotic (Lab4P) for 12 weeks can improve memory, thinking speed, and blood sugar control in overweight adults aged 18-40 with prediabetes (mildly high blood sugar). Seventy participants will be randomly assigned to receive either the prob…

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 study tests whether a drug called glycerol phenylbutyrate (RAVICTI®) can reduce fatigue and improve daily life for people with pyruvate dehydrogenase (PDH) deficiency, a rare genetic condition that affects energy production. About 15 children and young adults (ages 2 to 25) …

This observational study follows up to 2,000 adults with ATTR-CM, a serious heart condition, who are starting treatment with acoramidis as part of their normal care. Researchers will track patient characteristics, how the drug is used, and its effects on heart function and qualit…

This early-phase trial is testing a new version of CAR T-cell therapy that has been modified to improve its energy use, potentially making the cells more effective. It is for adults with certain types of B-cell lymphoma or chronic lymphocytic leukemia that have come back or not r…

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 a single dose of NTLA-2001, a gene-editing therapy, in 1200 adults with transthyretin amyloidosis with cardiomyopathy (ATTR-CM), a condition where abnormal protein builds up in the heart. The goal is to see if it reduces heart-related deaths and events compared t…

This early-phase study tests a new treatment for children whose neuroblastoma or osteosarcoma has come back or not responded to standard therapy. The treatment uses the patient's own T-cells, which are modified in a lab to better recognize and attack cancer cells. The main goals …

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 early-phase trial tests an oral drug called ATL-001 (ciclopirox) in 6 adults with congenital erythropoietic porphyria (CEP), a rare condition that causes severe skin damage from sunlight. The study measures whether the drug reduces skin lesions, fatigue, and other symptoms o…

This study looks at the long-term safety of an experimental medicine called mRNA-3927 for people with propionic acidemia, a rare genetic disorder that prevents the body from breaking down certain proteins and fats. About 50 participants who were in an earlier study will continue …

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 is testing a drug called pegunigalsidase alfa in about 16 Japanese patients aged 13 to 70 with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe and how it works in the body. Participants will receive the treatment and be monitored for side…

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 enrolls about 4,000 adults aged 60 and older with heart failure who are at high risk for ATTR amyloidosis, a rare disease that stiffens the heart. Doctors receive special training on how to spot and diagnose the condition using standard tests. The goal is to see if thi…

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 looks at tissue removed during back surgery to find early signs of a heart condition called ATTR cardiac amyloidosis. Researchers will test spine samples from 1,663 older adults for abnormal protein deposits. If found, participants will get further heart tests to confi…

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 compares a self-administered oral glucose tolerance test (OGTT) at home using a continuous glucose monitor (CGM) with the standard clinic-based OGTT. 75 adults with prediabetes will undergo both tests to see if the home version accurately diagnoses blood sugar problems…

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 offers expanded access to a PET scan using a radioactive tracer called 18F-DOPA to locate small, insulin-producing lesions in the pancreas. It is for patients with congenital hyperinsulinism, Beckwith-Wiedemann syndrome, or insulinoma who have low blood sugar. The goal…

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 tests a radioactive imaging agent called Iodine-124 evuzumitide (AT-01) in 150 people with systemic amyloidosis. The goal is to see how well it detects amyloid deposits in the heart and other organs using PET/MRI or PET/CT scans. If accurate, it could become a new tool…

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 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 whether ursodeoxycholic acid (UDCA), a drug used for bile duct problems, can stop statins from raising blood sugar. 128 adults with high cholesterol but normal blood sugar will take either UDCA or a placebo alongside atorvastatin for 6 months. Researchers will tr…

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 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 is testing whether a special software that analyzes CT scans of the heart's arteries can better prevent heart attacks, strokes, and other cardiovascular events compared to usual care based on risk factors like cholesterol and blood pressure. The trial will enroll 7,500…

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 whether taking part in racial justice activism can prevent depression and reduce physical stress in Black and Latinx young people aged 15-20. Researchers will measure mood, stress hormones, and health markers over two years. The goal is to see if activism can be …

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 looks at whether drinking regular milk can lower the risk of type 2 diabetes in people with lactose intolerance who also have pre-diabetes. Researchers will compare regular milk to lactose-free milk over 12 weeks in 40 adults. They will measure changes in gut bacteria,…

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 phase II trial tests whether a special form of nicotinic acid (a B vitamin) can reverse prediabetes and prevent type 2 diabetes. About 390 adults with prediabetes will take either a low or high dose of the drug or a placebo daily for 26 weeks, along with lifestyle advice. Th…

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 the drug sonlicromanol can reduce fatigue and improve physical abilities like balance and leg strength in adults with a specific genetic form of mitochondrial disease. About 220 participants will take either the drug or a placebo twice daily for 52 weeks.…

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 tests whether adding a medicine called ursodeoxycholic acid (UDCA) to standard light therapy helps clear jaundice faster in newborns. About 70 babies born at 34 weeks or later with jaundice will be randomly assigned to receive either light therapy alone or light therap…

This study tests whether taking L-carnitine, a natural substance that helps turn fat into energy, can improve symptoms and quality of life in people with heart failure and kidney problems. About 20 adults will take the supplement for a short time while researchers monitor side ef…

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 looks at whether a personalized strength exercise program can improve muscle function and reduce weakness attacks in adults with hypokalemic or hyperkalemic periodic paralysis. Over 24 weeks, 36 participants will be tested at the start, at 12 weeks, and after 12 weeks …

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 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 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 aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…

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 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 from the National Human Genome Research Institute aims to better understand Congenital Disorders of Glycosylation (CDG), a group of rare genetic conditions that affect how the body attaches sugars to proteins and fats. Researchers will examine up to 200 participants, i…

This study follows up to 1,000 adults with certain slow-growing blood cancers (CLL, SLL, LPL, WM) to track how the diseases change over time. Participants have regular check-ups and blood draws every 6 to 24 months, and may also have optional biopsies or scans for research. No tr…

This study looks for genetic changes linked to progressive familial intrahepatic cholestasis (PFIC) in adults with unexplained bile flow problems. Researchers will collect health information and blood samples from 150 participants across Spain during a single visit. The goal is t…

This study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

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 children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

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 follows people with propionic acidemia (PA), a rare metabolic disorder, to track how the disease affects the body over time. Researchers will collect medical history, blood, urine, and other samples, and perform imaging and heart tests during annual hospital visits. Th…

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 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 at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

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 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 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 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 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 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 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 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 will follow about 1,850 people with ATTR amyloidosis, a rare disease that affects the heart and nerves. Researchers will collect information on patients' health, treatments, and outcomes over time to better understand the disease and how current therapies work in every…

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 is a long-term registry that collects health information from people with Fabry disease, a rare genetic disorder. It does not test any new treatments; instead, it follows up to 9,000 patients worldwide to better understand how the disease progresses and how current tre…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study looks at how liver fat changes the way the body processes rosuvastatin, a common cholesterol drug, in children aged 8 to 21. Researchers will give a single dose to 50 kids with high cholesterol and measure drug levels and response. The goal is to understand if fatty li…

This global registry enrolls people with Pompe disease to track how the condition changes over time, whether they receive treatment or not. By collecting data from up to 2,000 participants, researchers hope to better understand the disease's progression and improve patient care. …

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 aims to learn more about alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis and other problems. Researchers will evaluate 300 patients over several years using advanced medical tests. The goal is to better …

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 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 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 follows up to 10 pregnant or breastfeeding individuals with transthyretin amyloidosis who have taken eplontersen, along with their infants. Researchers will track pregnancy complications, birth defects, and infant health during the first year of life. The goal is to de…

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 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 study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

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 study is observing 55 children and adults in Russia who have hypophosphatasia (HPP), a rare genetic bone disease. Researchers will track symptoms, lab results, and quality of life to learn how the disease naturally progresses. No treatments are being tested—the goal is to ga…

This study looks at how fat is stored in people with familial partial lipodystrophy (FPLD), a condition that can lead to diabetes and heart disease. Researchers will compare fat tissue from people with FPLD and healthy volunteers. Participants drink special water and get infusion…

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 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 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 looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

This study monitors up to 50 people with MPS VII (Sly Syndrome) to understand how the disease changes over time. It also checks the long-term safety and effectiveness of the drug vestronidase alfa. Participants may or may not be taking the drug, and the study involves regular che…

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 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 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 follows people with Fanconi anemia, a rare inherited condition that raises the risk of certain cancers, especially squamous cell carcinoma. Researchers will screen 200 participants aged 12 and older every year for up to 10 years using exams, blood tests, and imaging to…

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 collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

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 looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…

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 looks at how false or misleading health information found online affects the way people with chronic illnesses like diabetes and high blood pressure take their medications and make treatment decisions. Researchers will survey 300 adults who use social media at least on…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

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 aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

This study monitors pregnancy outcomes in women who took patisiran-LNP for hereditary ATTR amyloidosis. Researchers will track birth defects, pregnancy complications, and infant health. The goal is to better understand the drug's safety during pregnancy, not to test a new treatme…

This study is an early-stage trial to check the safety of a new drug called AZD4954. It involves healthy volunteers and people with high cholesterol (dyslipidemia). Researchers will give single and multiple doses to see how the drug moves through the body and if it causes any sid…

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 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 observational study will follow 1,500 people with ATTR amyloidosis, a rare disease that damages the heart and nerves, for many years. Researchers will track how the disease progresses, how patients are treated in real-world settings, and the safety of two approved drugs, pat…

This observational study follows people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401. The goal is to track their health and safety for at least 10 years after treatment. No new drugs or treatments are given in this study. It will help re…

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 will screen about 100,000 newborns in Normandy, France for two rare lysosomal storage diseases: MPS1 and Pompe disease. Researchers will take an extra blood sample from each baby to see how many have these conditions. The goal is to understand how common these diseases…

This study is for people with rare DNA repair disorders like Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy. Researchers will watch how symptoms like movement and balance change over time. No treatments are given—the goal is to better understand these conditions…

This study looks at people with creatine transporter deficiency, a rare genetic condition that causes intellectual disability, seizures, and movement problems. Researchers want to find the best tests to measure symptoms, since many standard tests are too hard for these patients. …

This study looks at whether people with certain rare metabolic disorders that cause high ammonia levels will measure their ammonia at home every day. About 30 participants will use a special device to check their ammonia, along with temperature, heart rate, and blood oxygen. They…

This study looks at how a supplement called nicotinamide riboside (NR) and a low-carb, high-fat 'ketogenic' diet affect the way the body burns fat and uses energy. Researchers will measure changes in metabolism in 100 overweight or obese adults. Participants will eat a standard d…

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 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 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 is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…

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 follows 450 US adults with Fabry disease who are taking migalastat or enzyme replacement therapy. Researchers will track kidney function, heart and brain events, and quality of life over time to see how well these treatments work in everyday practice.

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 looks at children and teens in Russia who may have a rare genetic condition called lysosomal acid lipase deficiency (LAL-D). Researchers will check for the disease in up to 1,200 participants using blood tests and genetic testing. The goal is to understand how often LA…

This study is a long-term registry that follows over 1,200 people with Gaucher disease worldwide. It collects real-world data on how the disease progresses and how different treatments, including velaglucerase alfa, work over time. No new drugs are being tested; instead, particip…

This study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treat…

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 how much protein adults with PKU need, based on their specific genetic mutation and the special medical foods they eat. Researchers will measure how the body processes a harmless tracer to find the right protein levels. The goal is to improve dietary recommend…

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 genetic changes in people with early-stage blood cancers or conditions that may lead to cancer. Researchers will analyze blood, bone marrow, or cheek cell samples from up to 10,000 participants to find DNA errors linked to cancer risk and progression. The goal…

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 is building a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, and Marfan syndrome. Researchers will collect DNA samples and medical information to discover which genes are most commonly affected and how often the…

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 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 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 follows 60 people with Danon disease, a rare genetic heart condition, to learn how it progresses over time. Researchers will monitor heart function and symptoms in males aged 8 and older and females aged 8 to 50. The goal is to gather natural history data that could su…

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 is testing whether following a Mediterranean-style diet based on U.S. dietary guidelines improves heart health more when combined with weight loss. Researchers will provide all meals for 70 adults with obesity or excess body fat for eight weeks. Participants will be sp…

This study looks at whether measuring telomeres—parts of our cells linked to aging—can help explain why some women still can't get pregnant even after fertility treatments. Fifteen women aged 25 to 42 will get blood tests to check their biological age, then receive a personalized…

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 is a global registry that will follow about 150 people with acute hepatic porphyria (AHP) over time. Researchers will collect information on how the disease progresses, how it is managed in real-world settings, and the safety and effectiveness of approved treatments li…

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 people with Irritable Bowel Syndrome (IBS) who have a reduced ability to break down starch and sugar due to low enzyme levels. Researchers want to see if these individuals have a smaller rise in blood sugar after a meal and more bowel symptoms compared to thos…

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 aims to see if a specially designed education module helps people with spinal cord injury (SCI) learn about their increased risk for heart disease, obesity, and metabolic problems. Researchers will enroll 250 adults with SCI and measure changes in knowledge, body weigh…

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 whether reducing ultra-processed foods (like chips and sugary drinks) can improve blood sugar levels in healthy Korean adults aged 20-39. Participants will wear a continuous glucose monitor and report their diet for 10 days before and after receiving dietary c…

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 is a worldwide registry that collects health information from people with Gaucher disease over many years. It does not test any new treatments—instead, it observes patients as they receive their usual care. The goal is to better understand how the disease progresses, i…

This study follows pregnant women with Pompe disease to see how the condition and its treatments affect pregnancy and infant growth. Researchers will track complications and monitor babies for up to three years after birth. No new drugs are being tested; participants receive thei…

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 observational study will follow 2000 adults with type 2 diabetes to see how their eating habits, body composition, and grip strength change over time. Researchers hope to identify patterns that could help improve care. Participants must be 18 or older and able to complete ba…

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 using advanced whole-genome sequencing to find hidden genetic causes of cholestatic liver disease in adults whose condition remains unexplained after standard tests. Researchers will compare the DNA of 60 affected adults to a large group of healthy controls. The goa…

This study looks at how women with a severe form of congenital adrenal hyperplasia (classic 21-hydroxylase deficiency) become pregnant and what happens during their pregnancies. Researchers will collect information from medical records and phone interviews with 200 adult women. T…

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 observational study will follow 20 adults with a confirmed genetic mutation for hereditary transthyretin amyloidosis (ATTR), a rare and serious condition that causes abnormal protein buildup in organs. Researchers will conduct thorough medical exams, heart tests, and neurolo…

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 study follows 50 pregnant women with phenylketonuria (PKU) who have taken the drug Palynziq (pegvaliase) around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health, including birth defects and development. The goal is to …

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 follows 3,000 adults with cirrhosis or who have had a liver transplant at a French hospital. Researchers will track survival and complications like bleeding or infections to learn how to improve patient care. The goal is to collect data and samples to better understand…

This study is looking at new blood markers that measure inflammation and oxidative stress in people with Gaucher disease type 1. Researchers want to see if these markers can give more information than the tests currently used. The study involves 34 adults who are stable on their …