NCT03018678

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 21 (actual)
• Sponsor: University of Pennsylvania · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH.

Detailed description

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.

Conditions

• Hypercholesterolemia, Familial

Timeline

• Start date: 2016-03-01
• Primary completion: 2017-05-30
• Completion: 2019-12-03
• First posted: 2017-01-12
• Last updated: 2020-03-06

Locations

1 site across 1 country: United States