Inherited lipid metabolism disorder

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This 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 early-stage trial is testing a new drug called Lu AG13909 in 42 adults with congenital adrenal hyperplasia (CAH), a rare genetic condition that disrupts hormone production. The study aims to check the drug's safety, how it moves through the body, and its effects on hormone l…

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

This study tests whether the drug Isturisa can improve blood sugar, cholesterol, blood pressure, weight, and bone strength in people with mild autonomous cortisol secretion (MACS), a condition where the body makes too much cortisol. Ten adults with MACS will take Isturisa for two…

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

This program gives adults and adolescents with familial chylomicronemia syndrome (FCS) and adults with severe hypertriglyceridemia (SHTG) access to an experimental drug called plozasiran. Participants receive injections every 3 months for 15 to 21 months. The goal is to lower dan…

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

This study tests whether giving L-Citrulline, a natural supplement, for 28 days can help hospitalized children aged 1 month to 5 years who have fever and are at high risk of serious problems. About 888 children in Mozambique and Ethiopia will receive either the supplement or a pl…

This study tests a drug called inclisiran in children aged 2 to 12 who have a rare genetic condition that causes extremely high cholesterol. The goal is to see if the drug safely lowers their bad cholesterol compared to a placebo. Participants will receive either inclisiran or pl…

This study tests a low dose of the drug osilodrostat in 15 adults with mild autonomous cortisol secretion (MACS), a condition where the body makes too much cortisol. The goal is to see if the drug is safe and can help balance cortisol levels. Participants will take the pill and b…

This study tests whether a daily dose of flaxseed oil (alpha-linolenic acid) can slow memory loss and protect brain blood vessels in older adults with mild cognitive impairment and the APOE4 gene, which raises Alzheimer's risk. Twenty participants will take either the oil or a pl…

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 early-stage trial tests a new gene-editing treatment called CS-121 in 15 children and teens (ages 4-18) with a rare condition causing extremely high triglycerides. The therapy uses lipid nanoparticles to deliver a base editor that targets the APOC3 gene in the liver. The mai…

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 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 a new drug called CMG190303 in 240 adults with type 2 diabetes and high cholesterol. It compares the drug's effect on blood sugar and LDL (bad) cholesterol against standard treatments. The goal is to see if the new drug works better at controlling both conditions…

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 study follows 200 Chinese children and adults with Fabry disease who are receiving routine treatment with Replagal (agalsidase alfa). The goal is to see how the therapy affects heart and kidney function over time, as well as quality of life and safety. Participants continue …

This study tests whether adding inclisiran (a twice-yearly injection) to standard care lowers LDL cholesterol more than standard care alone in 520 patients who recently had a heart attack, stroke, or urgent heart procedure. Participants are randomly assigned to receive inclisiran…

This study looks at whether a daily dose of milk polar lipids (a type of fat found in milk) can improve cholesterol levels, reduce inflammation, and support gut health in adults with high cholesterol and abdominal obesity. Researchers will measure changes in blood fats and other …

This early study tests a one-time gene therapy injection under the retina for children with CLN2 Batten disease who already receive enzyme therapy. The main goal is to check safety in 16 participants, with a secondary look at whether it can preserve vision. It is a first-in-human…

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 whether bempedoic acid, a cholesterol-lowering drug, can reduce artery inflammation and improve heart health in people with HIV. About 121 adults aged 40 and older with well-controlled HIV and at least one heart disease risk factor will receive either the drug or…

This study tests whether a special high-intensity interval training (HIIT) program can improve heart health in school-age children who are at high risk for cardiovascular disease. The program involves short bursts of intense exercise, done several times a week. Researchers will t…

This study tests an experimental drug called HRS-1301 in people with high cholesterol (dyslipidemia). About 189 participants will receive one of four doses of HRS-1301 or a placebo daily for 12 weeks. The main goal is to see how much the drug lowers 'bad' LDL cholesterol and to f…

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 phase 3 trial tests a new combination pill called Berlim 25/20, which contains two medicines: empagliflozin (for diabetes) and rosuvastatin (for cholesterol). The study aims to see if this single pill can better control blood sugar and LDL cholesterol in people with type 2 d…

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 study tests whether dynamic surface exercise training (exercises on unstable surfaces like physio balls) can improve mobility, balance, and coordination in children aged 5-8 with diplegic cerebral palsy. 14 children will be randomly assigned to either the dynamic surface exe…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

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 early-stage trial is testing an experimental drug called HM15421/GC1134A in 18 adults with Fabry disease, a rare genetic disorder. The study aims to check the drug's safety, how the body processes it, and whether it can help control the disease. Participants receive the drug…

This study aims to see if prescribing a specific number of daily steps based on a person's weight and body fat can help overweight and obese adults lose weight and improve heart health. Researchers will develop a formula to predict weight loss from step counts, then test it in an…

This early-stage trial is testing a single-dose gene therapy called AMT-191 in 12 adult men with classic Fabry disease. The therapy uses a harmless virus to deliver a working copy of the GLA gene to the liver, so the body can produce the missing enzyme. The main goals are to chec…

This study tests whether starting strong cholesterol-lowering therapy early can reverse plaque buildup in the arteries of young adults (ages 18-50) with familial hypercholesterolemia, a genetic condition causing very high cholesterol. Researchers will use CT scans to measure chan…

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 study tests whether a once-daily dual-release hydrocortisone pill (Plenadren) works better than standard multiple-dose glucocorticoids for adults with congenital adrenal hyperplasia. The trial will enroll 150 adults and measure changes in cholesterol, blood sugar, weight, bl…

This study is testing a fixed-dose combination of two cholesterol-lowering drugs, pitavastatin and ezetimibe, in over 8,600 people with high cholesterol or mixed lipid disorders. The goal is to see how well the combo works and how safe it is in real-world conditions, outside of a…

This phase 3 trial is testing whether a new combination drug (JW0104+C2402) can safely lower both blood pressure and LDL cholesterol in people with hypertension and dyslipidemia. 162 participants will take the drug once daily for 8 weeks. The study is randomized and double-blind,…

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

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

This study 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 tests whether a rapid triage test (suPAR) can help doctors make better decisions about admitting or discharging children with fever. Over 5,000 children aged 2 months to 5 years in sub-Saharan Africa will be randomly assigned to standard care or standard care plus the …

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

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

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

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

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

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

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

This study looks at whether watching an animated film or reading a storybook can lower fear and anxiety in children aged 7 to 12 who have just been diagnosed with type 1 diabetes. About 64 children will take part, and their anxiety levels will be measured using special child-frie…

This study tests whether playing with a therapeutic toy doll before getting a shot can reduce fear, anxiety, and pain in children aged 4-6. Half the kids will practice the injection steps on a doll first, while the other half get the shot as usual. Researchers will measure fear a…

This study tests whether a mindfulness-based emotion regulation training program can help children aged 7-11 who are hospitalized for at least four days feel less afraid and better control their emotions. Half of the 54 participants will receive the training alongside usual care,…

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 tests whether atorvastatin, a drug typically used for cholesterol, can reduce bile acid production and improve symptoms in people with bile acid diarrhoea (BAD). Twenty adults with moderate-to-severe BAD will receive atorvastatin and a placebo in random order, each for…

This study looks at whether doing Bulgarian bag exercises—like squats and lunges with a weighted bag—can improve lower limb function, posture, and balance in healthy school children aged 8 to 16. About 345 kids will take part, doing exercises guided by a therapist. Researchers wi…

This study looks at whether the Alexander Technique, a method that teaches better posture and movement, can help teenagers aged 13 to 16 with upper cross syndrome (a common postural problem). Thirty-six participants will either practice the Alexander Technique at home with parent…

This study tests whether a 12-week Pilates program can reduce pain and improve trunk muscle endurance in 140 children aged 12-16 who have backpack syndrome. One group does Pilates twice a week, while the other does standard stretching. Researchers will measure pain levels and how…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This study is for people with familial hypercholesterolemia (inherited high cholesterol) who have no heart symptoms yet. Researchers will use a special CT scan to check for hidden blockages in the heart arteries. The goal is to learn which factors are linked to these blockages, s…

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

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

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

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

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

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

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

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

This observational study will follow up to 1,000 people in France with mucopolysaccharidosis (MPS), a group of rare genetic disorders. Researchers will collect medical data from patient records and ongoing checkups to map how the diseases progress and how current treatments affec…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study aims to find out how many people with an enlarged spleen or certain blood disorders (like multiple myeloma) also have Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will use a simple blood spot test to check for these rare conditions. The goal …

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 follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study is creating an international registry for people with neutral lipid storage disease (NLSD), a rare condition where fat builds up in cells, especially affecting the heart. Researchers will collect medical history, track disease progression, and look for factors that inf…

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 is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

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 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 is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

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

This study 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 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 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 follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

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 will check whether cholesterol test results are reliable throughout a hospital stay for a heart attack. Researchers will measure cholesterol levels in 100 patients at the start of their stay, two days later, and again 4-6 weeks after discharge. The goal is to see if a …

This study watches 25 people with Fabry disease to see how the drug agalsidase alfa changes heart inflammation over one year. Participants get special heart scans (PET-CMR) at the start and after 12 months of treatment. The goal is to learn if the drug reduces inflammation in the…

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 early-stage study tests the safety and how the body handles a new oral drug, YH35995, in 86 healthy adult men. Participants receive either the drug or a placebo, and researchers monitor side effects and drug levels in the blood. The goal is to gather safety information, not …

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 is building a large group of 600 adults with various adrenal diseases, like Cushing's syndrome and adrenal tumors. Researchers will track their standard treatments (surgery, radiation, or medication) and outcomes. The goal is to learn more about these conditions, impro…

This study will assess the diet, heart health, body composition, mental wellbeing, and physical performance of 600 U.S. Army soldiers. Researchers aim to gather detailed data on nutrition and health, similar to a national survey but tailored for the military. The goal is to bette…

This study follows 300 people who are having weight-loss (metabolic) surgery to see how their gut bacteria change over time and how those changes relate to heart health, diabetes, and cholesterol. Participants provide blood and stool samples before surgery and at several follow-u…

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 collects medical and genetic information from people with SPLIS, a rare condition caused by a faulty enzyme. Researchers will track survival and when kidney problems start. No treatments are given, but the registry may help future research.

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study looks at how lipoproteins—tiny particles that carry cholesterol in the blood—work in healthy people and those with lipid disorders like high cholesterol. The goal is to understand how these particles affect heart and blood vessel health, especially when they don't func…

This early study is testing two types of fish oil—EPA and DHA—to see how they affect blood clotting and cholesterol in people with high triglycerides. Eighty participants will take one of the two oils for a month and have their blood tested. The goal is to learn which oil might b…

This study collects blood samples from 100 people with rare brain diseases like adrenoleukodystrophy and metachromatic leukodystrophy. Researchers will study immune cells called macrophages to see if they affect how the disease progresses. No treatment is given; the goal is to le…

This study looks at how high blood pressure, diabetes, and high cholesterol affect the tiny blood vessels in the back of the eye. Researchers will use a special, non-invasive camera to take detailed images of the retina and track changes over five years. The goal is to see if eye…

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 tests whether a computer alert in the electronic health record can help doctors identify patients with familial hypercholesterolemia, a genetic condition that causes very high cholesterol. About 450 adults at Brigham and Women's Hospital will be included. The alert cal…

This study looks at how natural genetic variations in the ANGPTL3 gene affect the way the body handles fats and sugars. Researchers will compare people with these gene variants to matched controls using special tests like fat and glucose tolerance tests. The goal is to better und…

This study follows 500 children and adults with Batten disease to learn how the condition naturally changes over time. Researchers will measure movement, thinking, behavior, and daily function using a special rating scale. The goal is to better understand the disease and improve …

This study follows 4,094 adults in Shanghai who were part of an earlier health survey. Researchers will track them for up to 10 years to see how heart disease, kidney problems, and metabolic conditions like diabetes and obesity develop and interact. The goal is to better understa…

This early-stage trial is testing two experimental drugs for high cholesterol, called UIC202502 and UIC202505, in 50 healthy adults. The goal is to see how the drugs interact when taken together or alone, and to check for safety. Participants will take each drug separately and th…

This study is looking at 50 adults with a rare genetic nerve disorder called RFC1-ataxia or CANVAS, which causes problems with balance, coordination, and sensation. Researchers will take blood samples and skin biopsies over 12 months to measure markers of cell stress and damage. …

This study looks at how blood flow and metabolism affect brain development in children with sickle cell anemia. Researchers will use MRI scans and a special mask to have participants breathe carbon dioxide, which helps measure how well brain blood vessels expand. The goal is to u…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…