RECRUITING

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Quick Facts

Study Start:2010-06
Study Completion:2025-05
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01109368

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:
  2. * 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:
  3. * DNA confirmation of a double mutation of the LDL receptor or apoB gene OR
  4. * LDL \> 160 mg/dL in both biological parents not associated with a disorder know to elevate LDL OR
  5. * Coronary artery disease in one or both parents or grandparents \< 55 years for males, \< 65 for females OR
  6. * Tendinous/cutaneous xanthomas \< age 10 or coronary artery disease \< age 20
  1. 1. Inability of patient, or, if less than 18, a parent, to sign informed consent.

Contacts and Locations

Study Contact

Lisa C. Hudgins, M.D.
CONTACT
646-317-0805
lih2013@nyp.org

Principal Investigator

Lisa C. Hudgins, M.D.
PRINCIPAL_INVESTIGATOR
The Rogosin Institute

Study Locations (Sites)

The Rogosin Institute, Weill Cornell Medical College
New York, New York, 10021
United States

Collaborators and Investigators

Sponsor: The Rogosin Institute

  • Lisa C. Hudgins, M.D., PRINCIPAL_INVESTIGATOR, The Rogosin Institute

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-06
Study Completion Date2025-05

Study Record Updates

Study Start Date2010-06
Study Completion Date2025-05

Terms related to this study

Keywords Provided by Researchers

  • Autosomal Dominant Familial Hypercholesterolemia

Additional Relevant MeSH Terms

  • Homozygous Familial Hypercholesterolemia