A repository for monitoring health in patients with homozygous familial hypercholesterolemia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to create a comprehensive repository to assess and monitor the health and cholesterol levels of individuals with homozygous familial hypercholesterolemia (hoFH). It will collect clinical data, including medical history, lipid profiles, and various imaging tests, to better understand the natural history of hoFH and the effectiveness of different treatments. The repository will also analyze blood samples for known and novel markers of arterial disease, contributing to the development of tailored treatment protocols. By establishing a systematic approach to monitoring this rare condition, the study seeks to improve patient outcomes over time.

Why it matters

Who can join: the full rules

Inclusion criteria:

1\. Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:

* Documented, untreated fasting LDL cholesterol level of \> 500 mg/dL and triglycerides \< 200 mg/dL on a cholesterol-lowering diet for at least 8 weeks with secondary causes excluded, AND:

  * DNA confirmation of a double mutation of the LDL receptor or apoB gene OR
  * LDL \> 160 mg/dL in both biological parents not associated with a disorder know to elevate LDL OR
  * Coronary artery disease in one or both parents or grandparents \< 55 years for males, \< 65 for females OR
  * Tendinous/cutaneous xanthomas \< age 10 or coronary artery disease \< age 20

Exclusion criteria:

1\. Inability of patient, or, if less than 18, a parent, to sign informed consent.

Where it's running

• Weill Cornell Medical College
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Lisa C. Hudgins, M.D. — Weill Medical College of Cornell University
• Study coordinator: Lisa C. Hudgins, M.D.
• Email: lih2013@med.cornell.edu
• Phone: (212) 746-3561

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Zodasiran for teens with homozygous familial hypercholesterolemia

  This study tests whether subcutaneous Zodasiran can help adolescents with HoFH who have very high LDL-C despite lipid-lowering therapy.

  Recruiting at 3 sites Phase 3 Arrowhead Pharmaceuticals · St Louis, Missouri and 2 other locations · NCT07473843

• Gene therapy for treating a rare cholesterol disorder

  This study is testing a new gene therapy to see if it can help people with a rare cholesterol disorder called homozygous familial hypercholesterolemia lower their cholesterol levels.

  Recruiting Early Phase 1 First Affiliated Hospital Xi'an Jiaotong University · Xi'an, Shaanxi · NCT06125847

• Registry for patients with homozygous familial hypercholesterolemia

  This study is creating a registry to collect health information from people with homozygous familial hypercholesterolemia to better understand this rare condition and improve future treatments.

  Recruiting at 4 sites University of Pennsylvania · Philadelphia, Pennsylvania and 3 other locations · NCT04815005

• CTX310 for refractory high triglycerides or LDL cholesterol

  This trial will test whether a single IV dose of CTX310 is safe and tolerated in adults whose high triglycerides or LDL cholesterol have not responded to available treatments.

  Recruiting at 16 sites Phase 1 CRISPR Therapeutics · Hialeah, Florida and 16 other locations · NCT07491172

• EDP167 dose testing for homozygous familial hypercholesterolemia

  This trial tests whether two injections of an siRNA drug called EDP167 can lower ANGPTL3 and improve lipid levels in adults with homozygous familial hypercholesterolemia (HoFH).

  Recruiting Phase 2 Eddingpharm (Zhuhai) Co., Ltd. · Beijing · NCT07489209

• ORIGIN-FH: Newborn screening to detect familial high cholesterol

  This project will test a genetic cheek swab of parents plus blood screening of newborns to find familial high cholesterol in babies born to parents with familial hypercholesterolemia.

  Recruiting University of Wisconsin, Madison · Madison, Wisconsin · NCT07470723

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.