Inborn errors of metabolism

This trial tests an experimental therapy called PM577a, which uses prime editing to correct a common genetic mutation that causes Wilson disease. The treatment is given as a single intravenous infusion and aims to restore the liver's ability to remove excess copper. The study inc…

This early trial tests a gene therapy called NGGT006 in people with homozygous familial hypercholesterolemia, a rare inherited condition causing extremely high LDL cholesterol and early heart disease. The therapy uses a harmless virus to deliver a working copy of the LDL receptor…

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 study looks at people with early-stage gastrointestinal cancers that have a mismatch repair deficiency, a feature that can make tumors respond well to immunotherapy. Part A is a registry that tracks all such patients, whether they have surgery or immunotherapy. Part B follow…

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 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 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 trial tests an investigational medicine called ATR 1072 in adults with PRKAG2 syndrome, a genetic condition that causes abnormal heart muscle thickening and rhythm problems. The drug is designed to reduce the activity of the faulty PRKAG2 gene. Researchers are evaluating its…

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

This study 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…

Researchers are testing whether adding bempedoic acid to high-intensity statin and ezetimibe therapy within 72 hours after a heart procedure helps adults with acute coronary syndrome reach very low LDL cholesterol. Participants receive either the three-drug combination or the sta…

Researchers are testing whether measuring phenylalanine at home once a week, rather than once a month, helps adults with classic phenylketonuria keep their levels in a healthier range. The trial enrolls 36 adults aged 18 to 65 who follow a low-protein diet and use special amino a…

Researchers are comparing two sequences of treatment for metastatic castration-resistant prostate cancer that carries certain DNA repair gene mutations. Participants receive either carboplatin first and olaparib second, or olaparib first and carboplatin second, switching after th…

Researchers are testing a combination of two drugs, doxecitine and doxribtimine, in adults with thymidine kinase 2 (TK2) deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The study will enroll about 15 adults with moderate to severe disease.…

This trial tests whether a single daily pill that combines treatments for high blood pressure, high cholesterol, and type 2 diabetes can lower the risk of heart disease and dementia. The study involves over 8,000 adults aged 50 to 75 in China who have all three conditions. Partic…

This study is for people who completed a previous trial of KL1333 (napazimone) for primary mitochondrial disease. It will test the drug's long-term safety and whether it helps with fatigue and daily activities. About 140 participants will take the pill twice daily for an extended…

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 drug called crinecerfont in 20 children aged 3 months to 4 years with classic congenital adrenal hyperplasia (CAH). The goal is to see if the drug is safe and tolerable. Participants must already be on stable hydrocortisone treatment. The study is not yet recru…

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 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 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…

Researchers are testing whether the drug daratumumab can treat kidney diseases caused by monoclonal gammopathy of renal significance (MGRS), a group of conditions where abnormal antibody proteins damage the kidneys. The trial enrolls 30 adults with biopsy-confirmed MGRS. Particip…

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 an oral drug called NEO212 in people with specific brain tumors (astrocytoma, glioblastoma) or cancers that have spread to the brain. The goal is to find the safest dose and see if it helps control tumor growth. About 134 adults will take NEO212 alone or with sta…

After a liver transplant, patients take tacrolimus to stop their immune system from rejecting the new organ, but the drug can cause kidney problems, high blood pressure, diabetes, and other side effects. Researchers at the University of Alberta are comparing a once-daily extended…

This pilot study tests a temporary, flexible tube called a duodenal-jejunal bypass sleeve. It is placed in the upper intestine using an endoscope and left for 3 months to help with weight loss and improve metabolic syndrome. The study involves 20 adults with obesity or excess wei…

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 study tests a procedure called pulsENDO that uses mild electric pulses to regenerate the lining of the duodenum (the first part of the small intestine). The goal is to improve blood sugar control and reduce fat buildup in the liver for people with type 2 diabetes and fatty l…

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

Researchers are testing an oral drug called PORT-77 in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), rare conditions that cause severe pain after sunlight exposure. The trial enrolls about 225 adults and adolescents aged 12 and older. It compa…

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

This 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 early-stage trial is testing an experimental drug called LP-168, taken as a pill, in adults with B-cell lymphoma that has come back or not responded to standard treatments. The study aims to find the safest dose and check for side effects in about 200 participants. It is too…

This study tests a gene therapy for GM1 gangliosidosis, a fatal disorder that destroys nerve cells. The therapy uses a harmless virus to deliver a working gene, helping the body produce a missing enzyme. Up to 54 children with Type I (ages 6-12 months) or Type II (ages 1-12 years…

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 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 trial investigates whether ECC4703, a potential new treatment for non-alcoholic fatty liver disease (NAFLD), changes how the body processes two other drugs: sulfasalazine and pitavastatin. Healthy adults aged 18 to 65 will take these drugs alone and then with ECC4703 to meas…

This study tests a new pill that combines two drugs (laroprovstat and rosuvastatin) to lower LDL or 'bad' cholesterol. About 600 adults with high cholesterol who have never taken cholesterol-lowering medication will receive either the combination, one of the drugs alone, or a pla…

This study looks at whether people who take GLP-1 receptor agonists (like Ozempic or Wegovy) should continue them after having bariatric surgery. Researchers will compare weight loss, blood sugar control, gut health, and hunger in 150 adults who either keep taking the drug or sto…

This study tests an experimental drug called RBD5044 in 120 adults with mixed dyslipidemia, a condition where both cholesterol and triglycerides are high. Participants receive either the drug or a placebo twice over 12 months to see if it safely lowers triglyceride levels. The go…

This study looks at whether eating cottonseed oil just three times a week can help lower cholesterol and reduce heart disease risk. Researchers will give 75 overweight or at-risk adults meal replacement shakes with different amounts of cottonseed oil for 56 days. They will measur…

This study tests whether a proactive, pharmacist-led telephone program can help people who have had a heart attack reach safer cholesterol levels. Participants receive pharmacist calls, repeat blood tests, and medication adjustments based on national guidelines. The goal is to se…

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

This early-phase trial is testing a new type of CAR T cell therapy called Azer-cel, which is made from healthy donor cells rather than the patient's own cells. It aims to treat adults with relapsed or refractory non-Hodgkin lymphoma, B-cell acute lymphoblastic leukemia, and relat…

This phase 2 trial tests an experimental injection called MWX203, given alone or with another drug called inclisiran, in people with mixed dyslipidemia whose blood fat levels stay high despite statin therapy. The study enrolls 216 adults in China who receive the injection under t…

This early-stage trial tests a new drug called LY4152199 in about 215 adults with certain types of blood cancer (like follicular lymphoma or diffuse large B-cell lymphoma) that have already been treated. The drug is designed to help the body's immune cells attack the cancer. The …

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

This 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 early-stage trial tests UX016, a drug designed to help people with GNE myopathy, a rare genetic muscle-weakening disease. Researchers will give the drug or a placebo to 24 adults to see if it is safe and improves muscle strength. The study is not yet recruiting.

This trial tests a procedure to remove and freeze ovarian tissue from pre-pubertal children who face cancer treatments that may harm their fertility. The goal is to store the tissue so it can be used later to restore fertility and hormone function. Researchers will follow partici…

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

This 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 the safety of Replagal, an enzyme replacement therapy, in 5 Indian children and adults with Fabry disease who have not taken it before. Participants receive an infusion every 2 weeks for about a year. The main goal is to track side effects and serious reacti…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

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 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 trial tests whether trained community health workers can help adults with high blood pressure, diabetes, or high cholesterol address social needs like transportation, healthy food, housing, and job opportunities. Participants from clinics will be connected to a health worker…

This early-phase study tests a new drug called DSB2455 in adults with advanced cancers (breast, ovarian, prostate, pancreatic, or brain metastases) that have a specific DNA repair problem. The main goals are to check safety and see if the drug shrinks tumors. About 180 participan…

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

This study tests 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 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 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 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 trial tests whether a Mediterranean diet, enriched with extra virgin olive oil or walnuts, can lower the chance of stroke and slow cognitive decline in people with cerebral amyloid angiopathy (CAA) or CADASIL, two conditions that affect blood vessels in the brain. Participan…

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 adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This study tests whether mirabegron (a bladder medication) and tadalafil (used for erectile dysfunction) can improve blood sugar control in people with prediabetes and obesity. About 96 adults will take one or both drugs or a placebo for 14 weeks. The goal is to see if these drug…

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 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 trial tests whether taking 150 mg of grape seed extract (MegaNatural BP) daily for 6 weeks can lower blood pressure and improve heart health in adults aged 40 to 60 with elevated blood pressure and prediabetes. Researchers will measure changes in blood pressure, blood vessel…

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

This 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 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 trial tests whether using portable HEPA air cleaners at home can reduce exposure to fine air pollution particles and, in turn, lower systolic blood pressure in people with metabolic syndrome. Participants in Qatar will use either a real HEPA filter or a sham filter for four …

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

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

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

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

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

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

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

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

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

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

This early-access program tests whether a weekly infusion of tralesinidase alfa directly into the brain's fluid spaces is safe and tolerable for children with Sanfilippo syndrome type B, a rare genetic disorder that causes severe neurological decline. The study enrolls about 10 c…

This study tests whether adding a bone-marrow concentrate injection during routine back surgery helps the spinal disc heal better. About 90 adults with a herniated disc will get either surgery alone or surgery plus the injection. Researchers will use MRI scans and pain questionna…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This study tests a new, non-surgical procedure called Endoscopic Radial Compression Gastroplasty (ERCG) that uses a clip-and-loop system to reduce stomach size, helping with weight loss. It is for Chinese adults aged 18-65 with a BMI of 24.0-37.4 who have not succeeded with diet …

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

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

This study tests a gene therapy called GS010 for people with Leber hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. Researchers will give the treatment as an injection into the eye at two different doses to see if it improves vision and mitoc…

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

This study tests whether adding a daily probiotic tablet and a coenzyme Q10 toothpaste to standard gum cleaning can improve oral health in pregnant women. Forty pregnant women will be split into two groups: one gets the probiotic plus Q10 toothpaste, the other gets only the Q10 t…

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

This study looks at whether limiting when you eat (to an 8- or 10-hour window each day) plus a special counseling program can improve health in people with metabolic syndrome. Researchers in Mexico will enroll 64 adults and track changes in waist size, blood pressure, blood sugar…

This study tests a nurse-led program called TOP-S that helps people with metabolic syndrome make lasting lifestyle changes. 152 Chinese adults in Hong Kong will either get the full program or brief advice. Researchers will check if the program helps reverse metabolic syndrome and…

This study tests whether limiting all eating to a consistent 10-hour window each day can improve blood sugar, cholesterol, and other health measures in people with metabolic syndrome or prediabetes. About 140 adults will either follow this eating schedule plus standard nutritiona…

This study tests whether a 12-week supervised strength training program, done at different speeds, can improve kidney function and metabolic health in people who have received a kidney transplant. Twelve adults aged 18-50 with stable kidney function will be randomly assigned to o…

This registry is tracking 1,500 Italian patients who are prescribed alirocumab 300 mg injections for high cholesterol. Researchers want to see how consistently patients take the medication and how well it lowers their cholesterol in real-life settings. The study also monitors sid…

This study tests a new gene therapy called LY-M001 for adults with Gaucher disease type 1, a genetic disorder that causes organ damage and other health problems. The therapy uses a harmless virus to deliver a working copy of the GBA1 gene to liver cells, aiming to restore the mis…

This early-phase trial tests a single dose of LY-M003, a gene therapy that delivers a working copy of the ATP7B gene to liver cells. The goal is to see if it is safe and can reduce the need for standard Wilson disease medications. The study enrolls 18 adults and children with con…

This Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both chi…

This early-stage trial tests a new method to diagnose and treat severe jaundice in newborns. The method uses a non-invasive breath test (ETCOc) to detect hemolysis, a common cause of jaundice. Researchers will compare this approach to standard care in 250 newborns to see if it re…

This study tests whether a diet rich in antioxidants—like fruits, vegetables, whole grains, and legumes—can lower the risk of metabolic syndrome in adults aged 18 to 45. Metabolic syndrome includes high blood sugar, high blood pressure, unhealthy cholesterol, and excess belly fat…

This study tests whether a pharmacist-led care pathway can improve blood sugar control in 600 adults with type 2 diabetes who are not meeting their A1C targets. Participants will receive step-by-step guidance from pharmacists using a web-based tool, compared to usual care from th…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This phase 2 study tests a drug called nedosiran (DCR-PHXC) in 28 people with primary hyperoxaluria type 1 (PH1) who have severe kidney impairment, with or without dialysis. The goal is to see if the drug safely lowers plasma oxalate levels, which can cause kidney stones and dama…

This study tests a new drug called ION283 in 10 people aged 10 to 18 with Lafora disease, a rare and severe form of epilepsy. The drug is given via a spinal injection to see if it is safe and can help control seizures and other symptoms. All participants will receive the same dos…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This study tests a different chemotherapy drug (trifluridine/tipiracil) for people with metastatic colorectal or gastroesophageal cancer who have a genetic condition (DPD deficiency) that makes standard chemo very toxic. About 73 participants will receive this drug along with oth…

This study tests whether a digital heart health program (a web app, online classes, and special foods) added to usual care can lower cholesterol and reduce heart attacks in people with heart disease or risk factors. About 1,100 participants will be randomly assigned to the progra…

This trial tests atezolizumab, a drug already approved for several cancers, in people with rare cancers that have high tumor mutational burden (TMB) or microsatellite instability (MSI). The goal is to see if the drug can shrink tumors or stop them from growing for at least 24 wee…

This phase 2 trial is testing whether giving the immunotherapy drug toripalimab, with or without the anti-inflammatory drug celecoxib, before surgery can improve outcomes for people with a specific type of colorectal cancer (dMMR/MSI-H). About 270 participants will receive the dr…

This study follows about 100 adults with Fabry disease who are taking or planning to take the medication Elfabrio. Researchers will monitor kidney function, heart health, and disease markers over time to see how well the drug works and if any side effects occur. The goal is to un…

This study tests several affordable oral medications—including semaglutide, empagliflozin, metformin, and pioglitazone—to see if they can reverse prediabetes, promote weight loss, and lower heart disease risk in Hispanic adults. Researchers will monitor blood sugar, body fat, and…

This study tests a stem cell transplant approach for people with Fanconi Anemia who don't have a perfectly matched donor. The goal is to see if using lower doses of chemotherapy before the transplant can reduce serious side effects. About 70 participants will receive a transplant…

Researchers at Johns Hopkins University are studying whether neuromuscular ultrasound and MRI can serve as reliable markers of swallowing muscle problems in people with inclusion body myositis (IBM). The study compares imaging and clinical findings in 30 participants, including p…

Researchers are building AI models that score standard physical and cognitive screening tests from video and audio, and that predict results a person did not obtain. The study enrolls adults 18 and older and follows them for life, linking records to a long-term aging study to che…

This study is testing whether a special PET/CT scan using an amino acid tracer can better detect tumors in people with amino acid transport disorders, primary hyperparathyroidism, or glioma. About 500 adults will receive a single injection of the tracer and then get scanned. The …

This study tests whether a cardiac imaging technique called a PYP scan can detect transthyretin amyloidosis in people aged 65 and older who have heart failure with preserved ejection fraction, also known as diastolic heart failure. The researchers will scan 515 participants to se…

This study aims to identify people at increased risk of developing type 1 diabetes by testing for specific markers in the blood called autoantibodies. Children and adults aged 1 to 45 who have a family member or close friend diagnosed with type 1 diabetes before age 45 can join. …

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

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

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

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

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

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

This study is testing a device that measures carbon monoxide in a newborn's breath to help diagnose jaundice. Jaundice is common in newborns and can be serious if not treated. The device is non-invasive and could replace or reduce the need for blood tests. Researchers will measur…

This study is testing whether a special PET/MRI scan using 18F-DOPA can accurately locate small, overactive areas in the pancreas that cause too much insulin (hyperinsulinism). The goal is to help doctors decide if surgery can remove just the problem spot, potentially curing the …

This trial tests whether two natural supplements—quercetin (from foods like apples and onions) and coenzyme Q10 (a substance your body makes)—can reduce inflammation and improve metabolic health in older adults. Over 12 weeks, participants aged 50 to 75 who are sedentary will tak…

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 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…

Researchers are testing whether daily cottonseed oil improves cholesterol and blood fat levels compared with oils that have a similar fat makeup. The study includes 90 adults aged 25 to 75 who have elevated cholesterol or excess weight. Participants drink a breakfast shake contai…

This pilot study tests whether a single, personalized conversation with a healthcare team member or a brief message through a patient portal can encourage adults with prediabetes to take action—like joining a diabetes prevention program or starting medication. Researchers will co…

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

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

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

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

This study tests whether a diet tailored to a person's unique metabolism (called a 'metabotype') can prevent type 2 diabetes better than standard healthy eating advice. Overweight or obese adults at risk for diabetes will follow either a personalized or standard diet for 12 month…

Researchers are testing whether a home-based program combining adapted exercise and mindfulness training can improve walking ability and sleep quality in people with rare neurodegenerative diseases such as leukodystrophy, ataxia, and adrenomyeloneuropathy. The study enrolls about…

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…

People with treatment-resistant schizophrenia often take clozapine, a drug that can cause serious weight gain and metabolic problems. This pilot study tests whether a daily infusion made from the leaves of the Nitraria retusa plant can reduce those side effects. Thirty patients w…

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

This trial tests whether two simple distractions — watching a betta fish or playing with a hand puppet — can lower pain, fear, and anxiety in children aged 5 to 7 during a blood draw. One group will use the fish, another the puppet, and a third will receive standard care. Researc…

This study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

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

This study tests 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 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 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 looks at whether doing adapted physical activity every day can improve sleep quality in children aged 5 to 16 who are being treated for blood cancer. About 30 children will take part, with some exercising daily and others just once over four days. Parents will track sl…

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 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 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 observational study aims to better understand primary mitochondrial myopathy, a rare muscle disease. Researchers will follow 1300 patients and healthy controls, measuring muscle strength, balance, and daily function over time. The goal is to develop and validate tools to tra…

This study will follow 2,000 adults with metabolic syndrome or prediabetes over time to understand how these conditions progress and lead to complications. Researchers will track health records, nutrition, and physical function to find key factors that affect long-term outcomes. …

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

This study examines how a type of immune cell called gamma delta T cells adapt and function in critically ill patients, both with and without sepsis. Researchers will compare these cells in healthy people, non-septic ICU patients, and septic ICU patients. The goal is to understan…

This study aims to learn more about lipid disorders—conditions that affect fats like cholesterol in the blood. Researchers will observe up to 2,000 people with abnormal cholesterol levels to better understand how these disorders develop and how to diagnose them. Participants will…

This study follows up to 2,500 people with thyroid problems like hyperthyroidism, hypothyroidism, or Graves' disease. Researchers will track how these conditions develop over time using standard medical tests and genetic samples. The goal is to better understand the natural histo…

This study follows people with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) over time to learn how the condition progresses and affects daily life. Researchers will collect health data and patient feedback to identify patterns and potential markers of the disease. The goal i…

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

This study 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 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 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 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 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 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 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 follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …

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 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 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 global study follows people with POLG-related disorders, a group of rare mitochondrial conditions, to understand how the disease progresses over time. By observing clinical changes in up to 300 participants of all ages, researchers aim to identify key milestones that could s…

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 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 observational study monitors the long-term safety of eplontersen, a treatment for transthyretin amyloidosis, in patients who have had a liver transplant or have severe liver impairment. Researchers will track side effects, lab changes, and serious health events in about 320 …

This study follows 150 adults aged 70 and older with low-grade non-Hodgkin lymphoma to see how their quality of life changes during treatment. Researchers will use questionnaires to track well-being from diagnosis through one year after therapy starts. The goal is to identify whi…

Acute intermittent porphyria (AIP) is an inherited disorder that can cause sudden, severe attacks, but not everyone who carries the gene gets sick. Researchers at Mount Sinai are collecting blood, saliva, and urine samples from about 150 people in AIP families, including affected…

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

This study aims to 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 705 adults with Waldenström's macroglobulinemia, chronic lymphocytic leukemia, marginal zone lymphoma, or follicular lymphoma who are taking zanubrutinib (with or without obinutuzumab). Researchers will track hospital visits, quality of life, and how well the d…

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 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 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 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 …

Researchers are building a large, diverse group of adults with varying body sizes, ethnicities, and diabetes risk. They will collect blood, stool, and fat tissue samples to study how obesity relates to diabetes and other health issues. The goal is to create a rich resource for fu…

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 is testing a new non-invasive device that uses laser speckle to measure blood flow and structure inside the eye. Researchers will compare these images with standard vision tests in 500 people with various retinal conditions. The goal is to see if this technology can be…

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 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 follows 300 people with CLN3 Batten disease, a rare genetic disorder that causes vision loss, seizures, and decline in thinking and movement. Researchers collect samples like blood and spinal fluid to find biological markers that could be used in future treatment trial…

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 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 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 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 follows over 4,000 people in Spain who have familial hypercholesterolaemia, an inherited condition causing very high cholesterol and early heart disease. Researchers track their cholesterol levels and any heart events, such as heart attacks or strokes, over time. The g…

This study looks at whether obese children with autism spectrum disorder differ from those without autism in fitness and heart health. Researchers will review medical records of 200 children aged 6 to 18, including step test results, handgrip strength, body measurements, and bloo…

This study follows 200 people with Gaucher disease over many years to learn how the condition affects the body long-term, including the nervous system, liver, and spleen. It also looks at how well current treatments like enzyme replacement therapy work over time. No new treatment…

This study follows 600 people with neurodegenerative diseases such as Parkinson's, Alzheimer's, and related conditions over 1 to 10 years. Researchers collect data from routine clinical exams, brain imaging, movement analysis, and blood tests. They use statistical tools and artif…

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 looks at why people with pre-diabetes or type 2 diabetes tire more quickly during leg exercises. Researchers will test a special low-load resistance training program, sometimes with blood flow restriction, to see if it improves muscle strength, blood flow, and energy u…

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 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 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 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 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 people who received an investigational gene therapy in an earlier iECURE trial for a urea cycle disorder, a condition that can cause dangerous ammonia buildup. Researchers will track safety, side effects, and whether the therapy's effects last over up to 14.5 y…

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 looks at women who carry the gene for X-linked adrenoleukodystrophy (X-ALD), a rare inherited condition that mainly affects the nervous system. Although the disease is linked to the X chromosome, up to 80% of female carriers may develop symptoms like leg weakness and b…

This study looks at adults who were diagnosed with classic congenital adrenal hyperplasia (CAH) as children, a condition that requires lifelong hormone therapy and sometimes early genital surgery. Researchers want to know if that childhood treatment, especially surgery, is linked…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This pilot study will test a tablet-based tool called TICOALA that checks language comprehension and learning in children aged 3 to 7 who visit a child psychiatry service in Paris. Researchers want to see if children, parents, and clinicians find the tool acceptable and if a larg…

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

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

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

This study is a large registry that will follow nearly 3,000 people with blood cancers like chronic lymphocytic leukemia and several types of lymphoma. Researchers will collect information on treatments, how the disease progresses, and patients' quality of life over time. The goa…

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

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

This European study will follow 400 people with cystinosis, a rare genetic disease that causes cystine buildup in cells. Researchers will collect medical and quality-of-life data to understand how the disease progresses and how care can be improved. The study does not test any ne…

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

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

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

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

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

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

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

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

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

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

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

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

This study is a registry that will follow up to 300 people with LAL deficiency, a rare genetic disorder that causes fat buildup in the body. Researchers will collect information over time to better understand how the disease progresses and how it affects patients. No new treatmen…

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

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

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

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

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

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

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

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

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

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study looks at how people with lipoprotein lipase (LPL) deficiency, a rare condition that causes extremely high blood fat levels, handle dietary fats. Researchers will use special imaging and breath tests to see where fat goes in the body and how it's used for energy. The go…

This study looks at how mitochondrial diseases might weaken the immune system. Researchers will collect blood samples from 60 people with confirmed mitochondrial disorders and compare their immune cells and antibodies to healthy controls. The goal is to better understand these im…

This study uses advanced heart MRI scans to look at blood flow patterns in people with different types of hypertrophic cardiomyopathy (thick heart muscle), including rare forms like Anderson-Fabry disease and cardiac amyloidosis. Researchers will also study first-degree relatives…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study is creating a large registry of people who have had a spontaneous coronary artery dissection (SCAD), a type of heart attack. Researchers will collect medical history and follow participants over time to learn more about risk factors, treatments, and long-term outcomes.…

This study looks at how moderate wine consumption changes tiny particles called extracellular vesicles, which help cells communicate. Eight healthy adults aged 35-65 will drink red wine, white wine, or water, and researchers will analyze their blood for changes in these particles…

This study looks at skin damage caused by D-Penicillamine, a common treatment for Wilson's disease. Researchers will measure skin elasticity in 120 participants, including patients and healthy volunteers, using silicone molds and laser analysis. The goal is to better understand h…

This study tests whether a ketone supplement can improve how the body uses insulin and burns energy. Ten overweight adults aged 55-70 will receive different combinations of growth hormone, a ketone drink, or placebos on separate days. Using advanced PET scans and tissue samples, …

This study is following 500 people with cerebral small vessel disease (CSVD) to see how their genes affect their brain scans, symptoms, and health over time. Participants get genetic testing and MRI scans at the start and again after 1-2 years. The goal is to better understand th…

This study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…

This study from Aarhus University is looking at how common magnesium deficiency is in people with Crohn's disease, ulcerative colitis, ileostomy, or bile acid diarrhea. Magnesium is important for muscles, nerves, and heart health, but standard blood tests may miss a deficiency. T…

This study looks at how copper levels in urine change throughout the day in people with Wilson disease, a genetic condition that causes copper buildup. Currently, patients must collect all urine over 24 hours to monitor treatment, which is inconvenient. Researchers want to see if…

This study looks at people with rare genetic changes that affect beta cells, which control blood sugar. Researchers will collect blood samples and optional MRI scans to find biomarkers and understand how these genes change body function. No treatment is given, and participants co…

This study is following 300 people in Norway who have had a spontaneous coronary artery dissection (SCAD), a rare cause of heart attacks, especially in women. Researchers will use scans, blood tests, and questionnaires to track their health for one year. The goal is to better und…

This study looks at whether tiny particles released by cells into the blood, called extracellular vesicles, can help detect a type of heart disease called ATTR amyloidosis earlier. The disease often goes unnoticed until serious damage occurs. Researchers will compare these partic…

This study will follow 20,000 adults in rural China for three years to understand how chronic diseases like high blood pressure, diabetes, and frailty develop. Participants will provide health data and samples to build a comprehensive database. The goal is to create better diseas…

This study looks at using liver elastography, a non-invasive ultrasound-like technique, to measure liver fibrosis in children with type III glycogen storage disease (GSDIII). The goal is to see if this method can replace painful liver biopsies for monitoring disease progression. …

This early-phase study looks at whether reducing high insulin levels (common in type 1 diabetes) with an SGLT2 inhibitor can improve heart and blood sugar health. Researchers will compare people with type 1 diabetes, those with a mild genetic diabetes (GCK-MODY), and healthy volu…

This study looks at babies diagnosed with type 1 diabetes before age 2, a rare and extreme form of the disease. Researchers want to understand what goes wrong in the immune system to cause such early onset. By studying these children and comparing them to others with diabetes and…

This study is building a global database of 1000 people with homozygous familial hypercholesterolemia (HoFH), a rare inherited condition causing extremely high cholesterol from birth. Researchers are gathering de-identified medical data from clinics around the world to better und…

This study looks at copper levels in breast milk from women with Wilson's disease who are on treatment. Wilson's disease causes copper buildup, and treatment can lower copper, which might affect breast milk. The goal is to find out if breastfeeding is safe for their babies. About…

This study looks at dental health and oral quality of life in people with Wilson's disease, comparing those with liver versus neurological symptoms to healthy controls. Researchers will collect saliva samples and use questionnaires and dental exams to see if copper levels in sali…

This study looks at whether Wilson's disease, a condition where copper builds up in the body, also damages the heart. Researchers will monitor 150 adults with Wilson's disease using heart scans, blood tests, and long-term heart rhythm recorders. The goal is to find out how often …

Fabry disease is a rare genetic condition that can cause pain, heart and kidney problems, and strokes. This study follows 100 people aged 65 and older with Fabry disease for 5 years, comparing those who receive specific treatment with those who do not. Researchers will measure qu…

This study creates a registry of 5,000 adults aged 50 and older with blood cancers like multiple myeloma and lymphoma. Researchers will track frailty, muscle loss, and other age-related health issues to better understand this group's needs. The goal is to gather information that …

This study aims to understand how a person's weight and blood sugar levels influence the activity of genes in tissues that process sugar and fat. Researchers will collect tissue samples from 20,000 adults undergoing abdominal surgery. The goal is to learn more about the link betw…

This study is a European registry for people with lipodystrophy, a rare condition where the body loses or lacks fat tissue. Researchers will follow up to 5,000 patients over time, collecting health data and genetic information. The goal is to better understand the disease, its pr…

This study looks at how increasing or decreasing physical activity changes the way your body works. Forty overweight adults aged 50-65 will either become less active for 3 months then retrain, or become more active for 6 months. Researchers will measure fitness, muscle strength, …

This study follows 100 people taking newer BTK inhibitor drugs (acalabrutinib or zanubrutinib) for blood cancers like leukemia or lymphoma. Researchers want to see how often these drugs cause high blood pressure or heart rhythm problems, and find early warning signs. Participants…

This study looks at 500 people with Waldenström macroglobulinemia, a rare blood cancer, to check how well current scoring systems predict survival and treatment response. Researchers will track patients over time, including those without symptoms, to refine these tools. The goal …

This study looks at how tiny air pollution particles and noise affect the heart and metabolism of adults aged 45-64 in Kaunas City. Researchers will test if daily walks in green spaces or following a Mediterranean diet can improve health markers. About 180 participants will wear …

This study enrolls 500 adults with nasopharyngeal carcinoma (stage I-III) who are receiving chemoradiotherapy with either proton or photon radiation. Researchers will collect imaging scans and blood samples to find markers that predict how well the cancer responds, side effects, …

This study aims to learn more about alpha-1 antitrypsin deficiency, a genetic condition that can affect the lungs and liver. Researchers will enroll up to 50,000 people who are at risk due to symptoms or family history. Participants will complete questionnaires to help track heal…

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

This study compares how well people who report cow milk intolerance digest goat milk versus cow milk. Twenty participants will drink both types of milk on separate days, and researchers will measure digestive discomfort and how nutrients are absorbed. The goal is to see if goat m…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This study looks at people who carry genetic changes linked to Leber Hereditary Optic Neuropathy (LHON) but still have normal vision. Researchers want to see if certain chemicals in the blood and tears can signal early nerve damage in the eye, before vision loss occurs. The goal …

This study aims to understand why some people with alpha-1 antitrypsin deficiency (AATD) get more respiratory infections. Researchers will compare immune responses to a pneumonia vaccine (PCV20) in 30 adults who carry one abnormal copy of the SERPINA1 gene. Half have had frequent…