FAMILIAL HYPERCHOLESTEROLEMIA

This study tests whether a supplement called 2-HOBA can improve the function of HDL (good cholesterol) in people with familial hypercholesterolemia, a genetic condition that causes very high cholesterol and heart disease risk. Researchers will give 72 participants either 2-HOBA o…

This study gathers anonymous health information from up to 75,000 people with familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol and early heart disease. Researchers will analyze this data to better understand how FH is diagnosed and treated aro…

This study looks at the best way to inform family members about their risk for two inherited conditions: Long QT Syndrome and Familial Hypercholesterolemia. Researchers will compare having the study team directly contact relatives versus having the patient (proband) contact them.…

This study is creating a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, or Marfan syndrome. Researchers will collect DNA samples and medical information to find out which genes are most commonly affected and how often thes…

This study is testing a way to find families with a genetic condition that causes very high cholesterol, called familial hypercholesterolemia. Researchers will screen 15,000 children aged 1-3 years and their parents using a finger-prick blood test. The goal is to see if this scre…

This study looks at whether adding a brief comment to lab reports for high cholesterol can encourage doctors to refer more patients to specialized lipid clinics. The goal is to find more people with familial hypercholesterolemia, an inherited condition that raises heart disease r…

This study aims to find different types of familial hypercholesterolemia (FH) in newborns. Parents will provide a cheek swab for genetic testing, and babies will have five blood samples collected over two years. The goal is to better understand and diagnose this inherited conditi…