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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT01109368
Other study ID # 0912010770
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date June 2010
Est. completion date May 2025

Study information

Verified date October 2023
Source The Rogosin Institute
Contact Lisa C. Hudgins, M.D.
Phone 646-317-0805
Email lih2013@nyp.org
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 60
Est. completion date May 2025
Est. primary completion date May 2025
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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.

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States The Rogosin Institute, Weill Cornell Medical College New York New York

Sponsors (1)

Lead Sponsor Collaborator
The Rogosin Institute

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Change in disease progression 10 years
See also
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Recruiting NCT06125847 - NGGT006 Gene Therapy for Homozygous Familial Hypercholesterolemia Early Phase 1
Completed NCT01878604 - Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia N/A
Completed NCT01412034 - Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects Phase 2
Withdrawn NCT02765841 - Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy Phase 3
Completed NCT03933293 - A Study to Evaluate the Safety and Efficacy of the PCSK9 Inhibitor AK102 in Patients With HoFH Phase 2
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Withdrawn NCT02399852 - Effects of Lomitapide on Carotid and Aortic Atherosclerosis N/A
Terminated NCT01841684 - Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042) Phase 3
Completed NCT01556906 - Safety, Tolerability and Efficacy of Microsomal Triglyceride Protein (MTP) Inhibitor Phase 2
Active, not recruiting NCT03135184 - HDL Acute Lipid Optimization in Homozygous Familial Hypercholesterolemia N/A
Recruiting NCT04815005 - HoFH, the International Clinical Collaborators Registry
Completed NCT03399786 - Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Phase 3
Completed NCT03851705 - A Study of Inclisiran in Participants With Homozygous Familial Hypercholesterolemia (HoFH) Phase 3
Completed NCT02265952 - Study of REGN1500 in Participants With Homozygous Familial Hypercholesterolemia (HoFH) Phase 2