The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
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ClinicalTrials.gov Identifier: NCT01109368 |
Recruitment Status
:
Recruiting
First Posted
: April 23, 2010
Last Update Posted
: April 10, 2018
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Condition or disease |
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Homozygous Familial Hypercholesterolemia |
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.
Study Type : | Observational |
Estimated Enrollment : | 60 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository |
Study Start Date : | June 2010 |
Estimated Primary Completion Date : | May 2020 |
Estimated Study Completion Date : | May 2020 |

- Change in disease progression [ Time Frame: 10 years ]
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion criteria:
1. Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:
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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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01109368
Contact: Lisa C. Hudgins, M.D. | 646-317-0805 | lih2013@nyp.org |
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. |
Principal Investigator: | Lisa C. Hudgins, M.D. | The Rogosin Institute |
Responsible Party: | The Rogosin Institute |
ClinicalTrials.gov Identifier: | NCT01109368 History of Changes |
Other Study ID Numbers: |
0912010770 |
First Posted: | April 23, 2010 Key Record Dates |
Last Update Posted: | April 10, 2018 |
Last Verified: | April 2018 |
Keywords provided by The Rogosin Institute:
Autosomal Dominant Familial Hypercholesterolemia |
Additional relevant MeSH terms:
Hypercholesterolemia Hyperlipoproteinemia Type II Hyperlipidemias Dyslipidemias Lipid Metabolism Disorders |
Metabolic Diseases Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Hyperlipoproteinemias |