Global Markets Direct's, 'Familial Hypercholesterolemia
(Type II Hyperlipoproteinemia) - Pipeline Review, H2 2012', provides an overview of the Familial Hypercholesterolemia
(Type II Hyperlipoproteinemia) therapeutic pipeline.
Studies are currently enrolling patients with familial hypercholesterolemia
or elevated cardiovascular risk, as well as patients unable to tolerate statin therapy.
Aortic stiffness in young patients with heterozygous familial hypercholesterolemia
Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia
Elias Zerhouni, President, Global Research & Development, Sanofi, added: "Our global Phase 3 program will include patients with high unmet medical need, such as patients with familial hypercholesterolemia
or with elevated cardiovascular risk who cannot reach their LDL-cholesterol goals with current standard therapies.
Genetic diagnosis of familial hypercholesterolemia
in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
To get an idea of how humans would react to injections of these genetically modified hepatocytes, scientists would first have to investigate the effects of transplanting normal, unaltered liver cells into people with familial hypercholesterolemia
, Wilson adds.
In that study, the treatment of patients who had heterozygous familial hypercholesterolemia
with a combination of 10-mg ezetimibe and 80-mg simvastatin was substantially more potent than was 80 mg of simvastatin alone for reducing blood levels of LDL cholesterol and high-sensitivity C-reactive protein, but the combination had absolutely no advantage over the statin alone for slowing the progression of carotid atherosclerosis, as measured by ultrasound during 2 years of follow-up in 720 patients.
Heterozygous familial hypercholesterolemia
(HFH)  is a common inherited dyslipidemia caused by mutations in the LDL receptor gene (1 ).
By age 35, they may have a heart attack; Brown and Goldstein estimate that up to 85 percent of men with familial hypercholesterolemia
will have a heart attack before they reach 60.
Phase 3 Extension Study Highlights Long-term Safety and Efficacy in Patients with Familial Hypercholesterolemia
Repatha is approved as an adjunct to diet and maximally tolerated statins in patients with heterozygous familial hypercholesterolemia
(HeFH) or clinical atherosclerotic cardiovascular disease (ASCVD), who require additional lowering of LDL-C; and as an adjunct to diet and other LDL-lowering therapies for the treatment of patients with homozygous familial hypercholesterolemia
(HoFH), who require additional lowering of LDL-C.
ENHANCE (Ezetimibe and Simvastatin in Hypercholesterolemia Enhances Atherosclerosis Regression) showed that in patients with heterozygous familial hypercholesterolemia
, a combination of ezetimibe and simvastatin was substantially more potent than simvastatin alone for reducing levels of LDL cholesterol and high-sensitivity C-reactive protein.
(FH, (6) MINI 143890) is caused by mutations in the gene encoding the LDL receptor (LDLR) that lower LDL clearance from plasma.
The disease, called familial hypercholesterolemia
, "is a vivid experiment of nature," Brown and Goldstein wrote in the November 1984 Scientific American.