Familial hypercholesterolemia

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 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 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 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 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 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 two methods to increase referrals to a centralized pharmacy service for managing statin therapy in patients with or at high risk for heart disease. One method sends reminders to doctors during office visits, and the other sends electronic messages outside of visi…

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 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 uses a machine-learning tool to scan electronic health records and flag patients likely to have familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol. Researchers then test a simple referral system that automatically schedules a visit wi…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

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 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 will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

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 whether a motivational interview—a 20-40 minute phone or video chat—can help people with familial hypercholesterolemia (FH) get their cholesterol checked and talk to family about screening. About 300 people with suspected or confirmed FH will be randomly assig…

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…