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Recruiting NCT01109368

NCT01109368 The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

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Clinical Trial Summary
NCT ID NCT01109368
Status Recruiting
Phase
Sponsor The Rogosin Institute
Condition Homozygous Familial Hypercholesterolemia
Study Type OBSERVATIONAL
Enrollment 60 participants
Start Date 2010-06
Primary Completion 2030-05

Eligibility & Interventions

Sex All sexes
Min Age N/A
Max Age N/A
Study Type OBSERVATIONAL

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 60 participants in total. It began in 2010-06 with a primary completion date of 2030-05.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief Summary

This repository will establish for the first time a system to carefully assess and monitor over time the general health and the amount of cholesterol in the arteries of U.S. children and adults with homozygous familial hypercholesterolemia (hoFH). Patients with this very rare disorder have very high blood levels of cholesterol from birth due to the inheritance of an abnormal gene from each parent. As a result, if untreated, heart attacks and sudden death occur in childhood. Treatments such as LDL-apheresis and liver transplant will lower the cholesterol level, but the best treatment and the best way to monitor the effect of the treatment on the arteries are unknown. The collection of clinical data and blood for analysis of known and yet-to-be discovered markers and predictors of arterial disease will yield new information about the natural history of the disorder and response to treatment. The repository will greatly aid the development of specific protocols that seek to learn more about this disease and new therapies.

Eligibility 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.

Contact & Investigator

Central Contact

Lisa C. Hudgins, M.D.

✉ lih2013@med.cornell.edu

📞 (212) 746-3561

Principal Investigator

Lisa C. Hudgins, M.D.

PRINCIPAL INVESTIGATOR

Weill Medical College of Cornell University

Frequently Asked Questions

Who can join the NCT01109368 clinical trial?

This trial is open to participants of all sexes, studying Homozygous Familial Hypercholesterolemia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT01109368 currently recruiting?

Yes, NCT01109368 is actively recruiting participants. Contact the research team at lih2013@med.cornell.edu for enrollment information.

Where is the NCT01109368 trial being conducted?

This trial is being conducted at New York, United States.

Who is sponsoring the NCT01109368 clinical trial?

NCT01109368 is sponsored by The Rogosin Institute. The principal investigator is Lisa C. Hudgins, M.D. at Weill Medical College of Cornell University. The trial plans to enroll 60 participants.

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