The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

2014-08-27 03:14:13 | BioPortfolio


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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective


Homozygous Familial Hypercholesterolemia


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




The Rogosin Institute

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:14:13-0400

Clinical Trials [435 Associated Clinical Trials listed on BioPortfolio]

Study of REGN1500 in Patients With Homozygous Familial Hypercholesterolemia (HoFH)

This is an open-label, single-arm study to assess the reduction of low-density lipoprotein cholesterol (LDL-C) by REGN1500 in patients with homozygous familial hypercholesterolemia (HoFH).

A Study of ALN-PCSSC in Participants With Homozygous Familial Hypercholesterolemia

The purpose of this study is to assess the safety, tolerability, and efficacy of ALN-PCSSC in participants with homozygous familial hypercholesterolemia.

Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)

This is a single center, open-label study to evaluate the efficacy of AKCEA-ANGPTL3- LRX for reduction of low density lipoprotein cholesterol (LDL-C) levels in patients with Homozygous Fam...

Biomarker for Homozygous Familial Hypercholesterolemia

Development of a new MS-based biomarker for the early and sensitive diagnosis of homozygous familial Hypercholesterolemia from plasma

Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy

The purpose of this study is to determine if implitapide, used in conjunction with other lipid-lowering therapies, is safe and effective when compared to placebo in lowering low-density li...

PubMed Articles [879 Associated PubMed Articles listed on BioPortfolio]

Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review.

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder that may cause life-threatening cardiovascular disease (CVD) at childhood. Marginal effectiveness of statins in reducing low-...

Is diet management helpful in familial hypercholesterolemia?

Familial hypercholesterolemia is a genetic condition where low-density lipoprotein (LDL) receptor defects cause severe elevations of LDL cholesterol. As significant LDL-lowering effects are needed, me...

Familial hypercholesterolemia and atherosclerotic cardiovascular mortality among Korean adults with low levels of serum cholesterol.

A few studies examined association between familial hypercholesterolemia (FH) and atherosclerotic cardiovascular disease (ASCVD) in Asians with low levels of serum cholesterol. The objectives of this ...

Familial Hypercholesterolemia: Although Identification Advances, Appreciation and Treatment Lag.

Familial hypercholesterolemia is one of the most common autosomal dominant inherited genetic disorders, yet it is frequently undiagnosed, leading to a markedly increased risk for cardiovascular events...

Statin Treatments And Dosages In Children With Familial Hypercholesterolemia: Meta-Analysis.

Children with familial hypercholesterolemia may develop early endothelial damage leading to a high risk for the development of cardiovascular disease (CVD). Statins have been shown to be effective in ...

Medical and Biotech [MESH] Definitions

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.

Diseases in which there is a familial pattern of AMYLOIDOSIS.

A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES.

Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.

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