Last updated on February 2018

Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia


Brief description of study

Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic metabolic disorder characterized by markedly elevated LDL-cholesterol (LDL-C) levels, resulting in severe atherosclerosis often leading to early onset of cardiovascular disease. The most frequent cause is mutation in the LDL receptor gene (LDLR). LDL-C levels remain frequently above acceptable levels despite treatment with multiple existing lipid lowering drugs and/or LDL apheresis. Thus, the functional replacement of the defective LDLR via AAV-based liver-directed gene therapy may be a viable approach to treat this disease and improve response to current lipid-lowering treatments. The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial. No study drug will be administered in this screening study.

Clinical Study Identifier: NCT03018678

Contact Investigators or Research Sites near you

Start Over

Marina Cuchel, MD, PhD

University of Pennsylvania
Philadelphia, PA United States
  Connect »