Inherited lipid metabolism disorder

This study tests a new gene therapy called LY3884961 in 32 people with moderate to severe Parkinson's disease who have a specific genetic change (GBA1 mutation). The treatment is given as a single injection into the fluid around the brain and spinal cord. The main goal is to chec…

This study tests whether triheptanoin, a special oil, can reduce major clinical events (like severe low blood sugar or heart problems) in children with long-chain fatty acid oxidation disorders (LC-FAOD), a rare condition where the body can't break down certain fats for energy. A…

Researchers are testing whether Chronocort, a modified-release hydrocortisone taken twice daily, controls hormones as well as standard glucocorticoid therapy in people aged 16 and over with congenital adrenal hyperplasia. The trial assigns participants to either Chronocort or the…

This study will test whether an artificial intelligence (AI) system can help community doctors better manage patients who have high blood pressure along with diabetes or high cholesterol. About 6,800 adults will be split into two groups: one where doctors use the AI tool to guide…

This study tests whether adding a new drug called AZD0780 to the common statin rosuvastatin can lower 'bad' LDL cholesterol more than rosuvastatin alone. About 76 adults with high cholesterol will take either AZD0780 or a placebo pill, plus rosuvastatin, for 12 weeks. Neither par…

This study tests a video-based healthy lifestyle program for adults aged 50 to 74 who are overweight and have conditions like prediabetes, type 2 diabetes, or high blood pressure. Participants use a tablet, scale, and activity tracker at home, and some get extra support from a co…

This study looks at the long-term safety of a daily pill called lucerastat for adults with Fabry disease, a rare genetic disorder. About 107 people who completed a previous study will take the drug and be monitored for side effects over several years. The goal is to see if lucera…

This study looks at how the drug crinecerfont works in babies under 2 years old with congenital adrenal hyperplasia (CAH), a condition where the body can't make certain hormones properly. The goal is to measure drug levels in the blood and check for side effects. Only 7 infants a…

This study tests an experimental oral drug called AZD0780 in 432 adults with high LDL cholesterol (dyslipidaemia). Participants take the drug or a placebo daily for up to 52 weeks to see if it safely lowers cholesterol. The goal is to manage the condition, not cure it, as ongoing…

This study follows people with Fabry disease who previously received an experimental gene therapy called ST-920 in an earlier trial. The goal is to monitor their health for up to five years after the infusion to see if the treatment remains safe over the long term. Participants d…

This early-stage study tests a single dose of BSA204, an experimental injection, in 40 Chinese adults with borderline high lipoprotein(a) – a fatty substance linked to heart disease. The main goal is to check safety and side effects, while also measuring changes in cholesterol le…

This phase 3 trial tests whether PLX-200 (gemfibrozil) can safely slow the progression of CLN3 disease, a rare genetic disorder that causes loss of motor skills, vision, and seizures in children. About 39 kids aged 6-18 will receive either the drug or a placebo for up to 96 weeks…

This early-phase trial is testing a single-dose gene therapy called LY3884961 in 7 infants with Type 2 Gaucher disease, a severe and rapidly fatal genetic disorder. The therapy is injected into the fluid around the brain and spinal cord to deliver a working copy of the faulty gen…

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 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 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 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 early-phase trial tests a single intravenous dose of LY-M001 gene therapy in 9 children (ages 6 to 17) with type 1 Gaucher disease. The goal is to see if it is safe and can improve key symptoms like liver size and blood markers. Researchers will monitor participants for side…

This early-stage study tests a new drug called AZD1705 in adults with high cholesterol (dyslipidemia). The main goal is to check if the drug is safe and how the body processes it. About 98 participants will receive either the drug or a placebo. This research helps determine if th…

This trial tests whether a monthly injection of lerodalcibep can safely lower LDL cholesterol in children aged 6 to 17 with heterozygous familial hypercholesterolemia, an inherited condition that causes dangerously high cholesterol. Participants receive either the drug or a place…

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 investigates whether tirzepatide, a drug used for diabetes and weight loss, can reverse biological aging in people with HIV who are virally suppressed and have obesity. Participants receive tirzepatide for 25 weeks after a diet program. Researchers measure epigenetic a…

This study tests an experimental drug called AZD0780 in 473 adults with a genetic condition that causes very high cholesterol (heterozygous familial hypercholesterolemia). The drug aims to lower LDL (bad) cholesterol more than a placebo over 12 weeks, with treatment lasting up to…

This phase 3 trial tests venglustat, a daily oral drug, against the standard IV treatment Cerezyme in 43 people with Gaucher disease type 3. Participants must have been on enzyme replacement therapy for at least 3 years. The goal is to see if venglustat can stabilize or improve n…

This phase 2 trial tests an oral drug called venglustat, given alongside the standard enzyme therapy Cerezyme, in adults with Gaucher disease type 3 (a rare genetic disorder affecting the body and brain). The study has four parts: first, it checks spinal fluid biomarkers to disti…

This study tests whether eating 1.5 cups of fresh mango daily for 12 weeks can improve blood sugar, cholesterol, and inflammation in people with prediabetes. Thirty-one participants will eat mango for 12 weeks, then take a break, and then avoid mango for another 12 weeks. Researc…

This study tests the safety and how the body processes migalastat in 14 adults with Fabry disease who have severe kidney impairment or are on dialysis. Participants take migalastat capsules, and researchers measure drug levels in blood and dialysate. The goal is to ensure proper …

This study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …

This study tests a drug called triheptanoin, already approved for similar conditions, to see if it can prevent dangerously low blood sugar in people with MCADD, a rare inherited disorder. About 24 participants aged 4 and older will take the medication and be monitored for safety …

This study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…

This study tests a single dose of PBGM01, a gene therapy delivered directly into the fluid around the brain and spinal cord, in children with GM1 gangliosidosis. The therapy uses a harmless virus to carry a working copy of the GLB1 gene, which is missing or faulty in these patien…

This phase 3 study tests whether venglustat, an experimental oral drug, can slow heart thickening better than current standard treatments in 104 adults with Fabry disease. Participants are randomly assigned to venglustat or usual care (enzyme replacement or migalastat) for 18 mon…

This early-stage trial tests a one-time gene therapy called CLN-301 in 7 children aged 3 to 10 with CLN3 Batten disease, a rare genetic disorder that causes progressive loss of vision, movement, and thinking skills. The therapy delivers a working copy of the CLN3 gene directly in…

This study tests a 3-month lifestyle program called the PILI Pasifika Program for Native Hawaiian and Pacific Islander adults who are overweight or have conditions like high blood pressure or diabetes. The program includes group lessons on healthy eating and physical activity, pl…

This study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…

This study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…

This study looks at whether taking a yerba mate extract can help improve health markers in overweight adults. Eighty people aged 40-65 will take either the extract or a placebo for 90 days. Researchers will measure changes in weight, blood sugar, cholesterol, and inflammation to …

This study looks at whether 10 weeks of regular exercise (on land or in water) can lower blood sugar and blood pressure in people aged 60 and older who have several health conditions like diabetes, high blood pressure, and arthritis. 63 volunteers will be split into two exercise …

This trial tests a 12-month lifestyle medicine program for 1000 adults with obesity and related conditions like diabetes or high blood pressure. Participants get regular visits with a dietitian and a doctor, plus optional behavioral health support. The goal is to see if the progr…

This study looks at different methods to help patients with high cholesterol and heart disease get the right medicines to lower their cholesterol. About 300 adults at high risk will take part. The goal is to see which approach helps more people reach their target LDL cholesterol …

This study tests a drug called crinecerfont in adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that requires lifelong steroid treatment. The goal is to see if crinecerfont can safely reduce the daily steroid dose needed while keeping hormone levels u…

This study looks at whether a special heart-friendly diet, with or without added plant sterols and krill oil, can improve cholesterol levels in people with familial hypercholesterolemia (a genetic condition causing very high cholesterol). About 300 participants will follow the di…

This phase 3 trial tests VSA003, an RNAi drug that targets a protein called ANGPTL3, in 46 Chinese adolescents and adults with homozygous familial hypercholesterolemia (HoFH), a genetic condition causing extremely high cholesterol. Participants receive either VSA003 or a placebo …

This study follows 60 adults with Fabry disease who are receiving pegunigalsidase-alfa, a newer enzyme replacement therapy. Researchers want to see how well it works in everyday medical practice, especially for kidney function. Participants will be treated for 2 years at speciali…

This study tests whether injecting a replacement enzyme directly into the eye can slow or stop vision loss in children with CLN2 Batten disease, a rare genetic disorder that causes blindness and brain damage. Five children aged 2 to 6 who already receive brain infusions of the en…

This Phase 3 trial is testing an oral drug called MK-0616 (enlicitide decanoate) in about 14,550 people at high risk for heart problems. The drug aims to lower cholesterol and reduce the chance of major events like heart attacks, strokes, and emergency artery procedures. Particip…

This study tests whether a Mediterranean diet combined with intermittent fasting can reduce liver scarring (fibrosis) better than the weight-loss medication naltrexone/bupropion. About 70 adults with overweight or obesity and heart or metabolic risks (like type 2 diabetes or high…

This study follows 116 people who received an experimental gene-editing therapy for heart disease or high cholesterol. Researchers will monitor them for 15 years to track any side effects and how well the treatment controls cholesterol levels. The goal is to understand the long-t…

This study tests three ways emergency responders help children breathe: a bag-mask, a throat tube, or a breathing tube. It includes 3,000 children under 18 with cardiac arrest, severe injury, or breathing failure. The goal is to see which method leads to more days alive and out o…

This study tests whether a nurse practitioner-led team can improve care for adults with two or more chronic conditions like heart failure, diabetes, or kidney disease. Participants are randomly assigned to either the nurse-led team or usual care. The team reviews medications to e…

This study tracks 73 adults with homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder causing extremely high cholesterol and early heart disease. Researchers will compare major cardiovascular events (like heart attacks and strokes) during the first three years…

This study follows about 847 adults with high cholesterol or mixed dyslipidemia who are starting inclisiran, a newer cholesterol-lowering drug. Researchers want to see how much LDL cholesterol drops after 10 months and how well patients stick with the treatment in real-world sett…

This study tests whether an electronic alert in the medical record can help doctors prescribe better cholesterol-lowering medications for heart disease patients with high LDL. About 400 patients from a single hospital will be randomly assigned to have their doctor receive the ale…

This study tests an investigational drug called BW-00112 in 145 adults with mixed dyslipidemia, a condition where levels of certain blood fats are too high. Participants receive injections of the drug or a placebo over several months while continuing their usual statin medication…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This study tests whether a pharmacist-led program can help people reduce their risk of heart disease. Over 1,000 adults with conditions like diabetes, high blood pressure, or obesity are taking part. Pharmacists use a step-by-step guide to assess risk and support lifestyle change…

This early-stage study tests a one-time gene therapy injection into the spinal fluid of children aged 1-18 with CLN7 Batten disease, a rare and fatal genetic brain disorder. The main goal is to check safety, but researchers will also measure changes in movement, thinking, and vis…

This early-phase trial tests a gene therapy called BBP-631 for classic congenital adrenal hyperplasia (CAH), a genetic condition that forces patients to take daily steroids. The therapy uses a harmless virus to deliver a working copy of the faulty gene. Only 8 adults are enrolled…

This study looks at whether a protein supplement called carnitine can reduce hardening of the arteries in teenagers at high risk for future heart disease. About 90 teens aged 11-21 with high triglycerides will take carnitine or a placebo. Researchers will measure artery stiffness…

This study compares two high-dose statin/ezetimibe combinations (rosuvastatin/ezetimibe vs. atorvastatin/ezetimibe) in 200 adults who have received a drug-eluting stent for coronary artery disease. The goal is to see which combo better maintains LDL cholesterol below 55 mg/dL ove…

This early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…

This study follows 75 people with Gaucher disease type 1 who previously received FLT201 gene therapy. Researchers will monitor them for 5 years to see if the treatment remains safe and if its effects last. The goal is to understand whether a single dose can provide long-term dise…

This program provides evinacumab to children with homozygous familial hypercholesterolemia (HoFH) or severe high triglycerides when standard treatments don't work. The drug helps lower dangerous fat levels in the blood, but patients must keep taking it long-term to control their …

This study follows 7 people who previously received a gene therapy called AXO-AAV-GM2 for Tay-Sachs or Sandhoff disease — rare, fatal genetic disorders that destroy nerve cells. Researchers will track them for up to 5 years to see if the treatment remains safe and whether it help…

This study looks at whether a statin drug (atorvastatin) and swapping some saturated fats for healthier ones can safely lower cholesterol in adults with epilepsy who have been on a modified Atkins diet for at least a year. The diet helps control seizures but can raise cholesterol…

This study follows 10 people with CLN6 Batten disease who received a single dose of gene therapy (AT-GTX-501) in an earlier trial. Researchers are checking long-term safety and how the disease progresses over time. No new treatment is given in this follow-up.

This phase 2 trial tests whether metyrapone, a drug that lowers cortisol production, is safe and effective for people with mild autonomous cortisol secretion (MACS). About 30 participants will take the drug for a period, and researchers will track side effects and cortisol levels…

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…

This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is …

This trial tests whether an educational program on sustainable diet and breastfeeding, given before delivery, can increase the number of mothers who exclusively breastfeed for up to six months. The study includes 429 pregnant women and also measures the environmental impact of di…

This study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…

This study is testing a digital health platform called STELA that creates personalized lifestyle plans to reduce risk factors for heart disease, like obesity, high cholesterol, and insulin resistance. About 100 adults without existing heart disease will use the platform for a yea…

This large, phase 4 trial is testing whether berberine, a natural compound, can prevent heart disease and diabetes in over 2,000 high-risk adults in China. Participants take berberine or a placebo twice daily, plus receive lifestyle advice. The study tracks blood sugar and heart …

This study tests whether special slip-resistant shoes can help dairy workers avoid slipping on wet, slippery floors. About 22 full-time employees at a Danish dairy will wear different shoes and rate how slippery they feel each day. The goal is to find footwear that reduces fall r…

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 tests whether venglustat can reduce nerve pain in the arms and legs, and belly pain, in people with Fabry disease. Participants are 16 or older and have not had Fabry treatment for at least 6 months. The trial lasts 12 months, with visits every 3 months, and compares v…

This study aimed to see if making physical activity into a game could help older hospital patients move more. Participants would have received daily text messages, set step goals, earned points, and worn a Fitbit to track their steps. The study was withdrawn before any patients w…

The Austrian LEAD study follows a large group of people to understand how lung, heart, and metabolic health change over time. Researchers measure lung function with spirometry and track body composition and metabolic markers. By observing this group, they aim to learn how these c…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This study will interview 35 adults in Sweden who have Fabry disease but are not yet receiving treatment. The goal is to learn how they experience their quality of life, daily activities, and healthcare support. By listening to patients' own stories, researchers hope to identify …

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 observational study follows about 198 patients in Spain who are already taking inclisiran (Leqvio) for high cholesterol linked to heart disease or a genetic condition. Researchers will check if patients reach their LDL cholesterol goals after 6 and 12 months. The goal is to …

This study tracks 585 patients with familial or regular high cholesterol who are already prescribed Leqvio. Researchers will monitor side effects and cholesterol levels over time to see how safe and effective the drug is in everyday use. No new treatment is given—it's purely obse…

This study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…

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 follows 35 children with CLN2 disease (a rare, severe brain disorder) who are taking cerliponase alfa (Brineura). Researchers will monitor for side effects and serious reactions over time. The goal is to better understand the long-term safety of this enzyme replacement…

This study examines health data from about 800,000 Korean adults to see how often conditions like obesity, type 2 diabetes, heart disease, chronic kidney disease, and fatty liver occur together. Researchers will analyze national survey and insurance records from 2013 to 2023. No …

This study is creating a collection of blood samples and health information from 250 adults with very high or very low cholesterol or related lipid problems. Researchers will analyze these samples to learn more about the genetic and biological causes of these extreme lipid disord…

This study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This study follows 78 adults in Taiwan who have Fabry disease and carry a specific genetic mutation called GLA IVS4. Researchers are looking at how the disease affects the heart and other organs over time, both in people who have never been treated and those who have received aga…

This study follows 450 infants and their families from birth to age 12 to learn how a child's biology and home environment work together to shape eating habits and growth. Researchers collect samples, measurements, and surveys at regular visits. The goal is to understand what inf…

This study aims to find new genes that cause very low cholesterol levels (a condition called FHBL). Researchers are recruiting 435 people with low cholesterol and their family members to analyze their DNA. The goal is to discover new targets for understanding and potentially mana…

This study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition where harmful substances build up and damage organs, especially the heart. Researchers use advanced heart scans and blood tests to track how the disease prog…

This study looks at how exercise changes the signals muscles send to the rest of the body, especially those that help burn fat. Researchers will compare obese, lean, and athletic participants to find proteins or genetic codes released from muscle during exercise. The goal is to b…

This study tests whether a 'toolbox' of educational materials—including report cards for doctors, patient handouts, and an online decision aid—can increase the use of cholesterol-lowering statins in communities with high rates of heart disease. Researchers will track prescription…

This study is observing 5000 adults with high cholesterol who are taking bempedoic acid (alone or with ezetimibe) as part of their normal medical care. Researchers will collect data on cholesterol levels, heart events, side effects, and quality of life over one year. The goal is …

This study checks how common high levels of lipoprotein(a) — a genetic risk factor for heart disease — are among hospital staff and their families. About 2800 participants will give blood samples and be followed over time to see if high levels lead to more heart problems. The goa…

This registry is following 1,000 people who have trouble tolerating statins, a common cholesterol-lowering drug. Researchers will track how often treatments are changed, cholesterol levels, and quality of life over time. The goal is to better understand this condition and improve…

This study reviews past clinical trials to see if different soy foods (like tofu, tempeh, and soy drinks) lower cholesterol as effectively as isolated soy protein. The goal is to help update dietary guidelines and health claims. No new participants are being enrolled; the researc…

This study follows about 3,000 adults in Port-au-Prince, Haiti, to learn how common heart disease risk factors like high blood pressure, diabetes, and smoking are, and how they lead to heart attacks, strokes, and other heart problems. Researchers will track participants for about…

This study tests two new ways to help people with familial hypercholesterolemia (a genetic high cholesterol condition) get their family members screened. About 800 adults from Penn Medicine will be assigned to receive automated reminders, a patient navigator, or usual care. The g…

This study looks at how breastfeeding changes cholesterol and heart disease risk in women with familial hypercholesterolemia (FH), a genetic condition causing high cholesterol. Researchers will follow 50 pregnant women with and without FH from late pregnancy to one year after bir…

This study looks at people with rare adrenal tumors (pheochromocytomas and paragangliomas) that do not produce excess hormones. Researchers want to see if these 'silent' tumors still cause heart problems, blood pressure changes, or metabolic issues like diabetes and high choleste…

This observational study plans to enroll 120,000 people with various chronic diseases like pancreatitis, diabetes, and arthritis. Researchers will collect blood samples and health data to study how genetics and lifestyle affect disease progression. The goal is to find common dise…

This study watches 100 people with Fabry disease who are already taking enzyme replacement therapy as part of their regular care. Researchers want to see how the treatment affects their health over time by checking things like kidney function and pain levels. The study does not t…

This study tests new tools to help primary care doctors diagnose familial hypercholesterolemia (FH), a genetic condition that causes very high cholesterol and early heart attacks. About 532 clinicians will use special checklists and reminders during patient visits. The goal is to…

This pilot study aimed to see if a self-paced virtual education video could help adolescents and young adults (ages 16-22) with congenital adrenal hyperplasia (CAH) become more independent in managing their health. Participants would have been split into two groups: one watching …

This study looks at symptoms and lab tests to help doctors better diagnose acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size using ultrasound over 12 months in 7 patients. …

This study looks at how different types of fats in the blood (like cholesterol) are linked to complications in adults with sickle cell disease. Researchers will follow 116 participants from the French Caribbean islands to track their fat levels over time and during acute events l…

This study looks at how children with CLN2 Batten disease develop over time, including their thinking, language, and motor skills. Researchers will compare children who receive treatment (cerliponase alfa) with those who do not. The goal is to find better ways to measure the dise…

This study is a review of many smaller trials that looked at what happens when people replace animal protein (like meat, dairy, eggs) with plant protein (like beans, nuts, seeds). The goal is to see if this simple swap can improve blood sugar, cholesterol, blood pressure, weight,…

This study planned to test whether an 8-week course of a flavored drink containing essential amino acids plus arginine could reduce liver fat and improve metabolism in obese children aged 7-10. The researchers intended to measure changes in liver fat, blood fats, insulin sensitiv…

This study aims to develop and test educational content that explains statin side effects, including placebo and nocebo effects. Researchers will gather feedback from 30 adults with cardiovascular risk factors through surveys and interviews. The goal is to see if this content is …

This pilot study aimed to see if taking fish oil supplements could improve gut bacteria and make exercise more effective at reducing inflammation in people with obesity. The study was withdrawn before any participants were enrolled, so no results or conclusions are available.