A repository for monitoring health in patients with homozygous familial hypercholesterolemia
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
This study is trying to gather health information from people with homozygous familial hypercholesterolemia to better understand their condition and find ways to improve their treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Sex | All |
| Sponsor | The Rogosin Institute Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT01109368 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with documented hoFH and specific genetic or clinical criteria.
Not a fit: Patients who do not meet the criteria for hoFH or those unable to provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved treatment protocols and better management of cholesterol levels in patients with hoFH.
How similar studies have performed: While this approach is novel in its comprehensive data collection for hoFH, similar studies in related conditions have shown promise in improving patient management.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
New York, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.