Familial hyperlipidemia

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

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

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

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

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

This study looks at 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 …

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 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 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…