Clinical Trial: Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
Brief Summary: 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.
Detailed Summary:
Sponsor: University of Pennsylvania
Current Primary Outcome:
- genetic analysis [ Time Frame: Screening phase ]
- Neutralizing antibodies [ Time Frame: Screening phase ]
Original Primary Outcome: Identification of patients with homozygous familial hypercholesterolemia (HoFH) for a phase 1/2a gene therapy trial using AAV8.TBG.hLDLR. [ Time Frame: Screening phase ]
Current Secondary Outcome:
Original Secondary Outcome:
Information By: University of Pennsylvania
Dates:
Date Received: January 10, 2017
Date Started: March 2016
Date Completion: June 2018
Last Updated: January 18, 2017
Last Verified: January 2017
