Homozygous Familial Hypercholesterolemia Clinical Trial
Official title:
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT04031742 -
A Study to Evaluate Safety and Efficacy of IBI306, a PCSK9 Monoclonal Antibody in Chinese Subjects With Homozygous Familial Hypercholesterolemia
|
Phase 2/Phase 3 | |
| Not yet recruiting |
NCT06009393 -
Evaluate the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia
|
Phase 2 | |
| Completed |
NCT03156621 -
Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH)
|
Phase 3 | |
| 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 | |
| Completed |
NCT00704535 -
Evaluation of the Safety, Tolerability and Efficacy of Ezetimibe on a Select Population of Filipinos With Hypercholesterolemia (Study P04748)(COMPLETED)
|
||
| Recruiting |
NCT02135705 -
LOWER: Lomitapide Observational Worldwide Evaluation Registry
|
||
| Completed |
NCT03409744 -
Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia
|
Phase 3 | |
| Completed |
NCT04233918 -
Evaluate the Efficacy and Safety of Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia
|
Phase 3 | |
| 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 |