Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by The Rogosin Institute
Sponsor:
Information provided by (Responsible Party):
The Rogosin Institute
ClinicalTrials.gov Identifier:
NCT01109368
First received: April 21, 2010
Last updated: May 22, 2014
Last verified: May 2014
  Purpose

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.


Condition
Homozygous Familial Hypercholesterolemia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Resource links provided by NLM:


Further study details as provided by The Rogosin Institute:

Primary Outcome Measures:
  • Change in disease progression [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Plasma, serum, monocytes


Estimated Enrollment: 60
Study Start Date: June 2010
Estimated Study Completion Date: May 2020
Estimated Primary Completion Date: May 2020 (Final data collection date for primary outcome measure)
Detailed Description:

Detailed information of "standard of care" procedures will be compiled in a database. These include medical history and physical exam, lipid profiles and other standard blood tests, dietary evaluation and counseling, cardiology evaluation including EKG and echocardiogram,ultrasound of carotids and femoral arteries, CT angiogram and, if indicated, intracoronary angiography (ICA) with intravascular ultrasound (IVUS) and stress echo or nuclear stress testing.

The recommendation for treatment will be individualized. Current options are a) FDA approved cholesterol-lowering medications: statins, ezetimibe b) LDL-apheresis c) liver transplant d) portacaval shunt e) investigational drugs. Treatment of vascular and/or valvular disease may include aspirin, beta blockers, clopidogrel, angioplasty with metal stent, coronary artery bypass surgery, aortic valve repair/replacement.

Research procedures will include medical photos of skin xanthomas, blood assays (apolipoproteins A and B, LDL particle size, homocysteine, TNF, IL-6, insulin, glucose, ICAM, VCAM, P and E selectin, and endothelial progenitor cells), and DNA analysis of the genes for the LDL receptor and other lipid-related genes.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Males and females of any age with severely elevated LDL cholesterol levels without secondary causes and a family history consistent with an autosomal dominant disorder.

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01109368

Contacts
Contact: Lisa C. Hudgins, M.D. 646-317-0805 lih2013@nyp.org
Contact: Chioma Okoro, MPH 212-249-8047 cno9001@nyp.org

Locations
United States, New York
The Rogosin Institute, Weill Cornell Medical College Recruiting
New York, New York, United States, 10021
Contact: Lisa C. Hudgins, M.D.    646-317-0805    lih2013@nyp.org   
Principal Investigator: Lisa Hudgins, M.D.         
Sub-Investigator: Bruce Gordon, M.D.         
Sub-Investigator: Theodore Tyberg, M.D.         
Sub-Investigator: Daniel Levine, Ph.D.         
Sub-Investigator: Thomas Parker, Ph.D.         
Sub-Investigator: Geoffrey Bergman, M.D.         
Sub-Investigator: Sheila Carroll, M.D.         
Sub-Investigator: Ajay Mirani, M.D.         
Sub-Investigator: Akiko Maehera, M.D.         
Sponsors and Collaborators
The Rogosin Institute
Investigators
Principal Investigator: Lisa C. Hudgins, M.D. The Rogosin Institute
  More Information

No publications provided

Responsible Party: The Rogosin Institute
ClinicalTrials.gov Identifier: NCT01109368     History of Changes
Other Study ID Numbers: 0912010770
Study First Received: April 21, 2010
Last Updated: May 22, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by The Rogosin Institute:
Autosomal Dominant Familial Hypercholesterolemia

Additional relevant MeSH terms:
Hypercholesterolemia
Hyperlipoproteinemia Type II
Dyslipidemias
Genetic Diseases, Inborn
Hyperlipidemias
Hyperlipoproteinemias
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on November 20, 2014