This study is creating a collection of information (repository) about children and adults in the U.S. who have homozygous familial hypercholesterolemia (hoFH). This is a very rare condition where you inherit an abnormal gene from both parents, leading to very high cholesterol levels from birth. The goal is to better understand how hoFH affects health over time and how different treatments impact the arteries. Researchers will gather detailed medical information, including blood tests, heart evaluations, and imaging of your arteries. They will also collect information on treatments like statins, ezetimibe, LDL-apheresis, and liver transplant. This will help doctors learn the best ways to monitor and treat hoFH. To join, you must have hoFH, confirmed by very high LDL cholesterol levels (over 500 mg/dL) and/or genetic testing.

Study design

This is an observational study, meaning researchers will collect information without providing specific interventions. It aims to enroll 60 participants.

What's involved

Participants will undergo medical history and physical exams, blood tests, dietary evaluations, and cardiology evaluations including EKG, echocardiogram, and artery ultrasounds. Some may also have CT angiograms or other heart procedures. Medical photos of skin xanthomas and additional blood tests will also be taken.

Compensation

Not stated in the trial record.

Follow-up

The study will track changes in disease progression over 10 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.