A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)

Stopped early · Phase 1/Phase 2

Conditions studied: Homozygous Familial Hypercholesterolemia (HoFH)

In brief

This first-in-human study is intended to evaluate the safety and preliminary effectiveness of AAV (Adeno-associated virus)-based liver-directed gene therapy in the treatment of adults with Homozygous Familial Hypercholesterolemia (HoFH).

Key facts

Study ID

NCT02651675

Run by

REGENXBIO Inc.

People needed

9

Starts

2016-03-01

Expected to finish

2020-11-27

Last updated by the study team

2023-07-13

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Male or female ≥ 18 years of age.
• Untreated and/or treated LDL-C levels and clinical presentation consistent with the diagnosis of homozygous FH (Familial hypercholesterolemia)
• Molecularly defined LDLR mutations at both LDLR alleles.
• A baseline serum AAV8 NAb (Neutralizing antibody) titer ≤ 1:10.

You may not qualify if…

• Unwilling to wash out of the following lipid lowering therapies for the pre-specified time period:
• niacin > 250 mg/day: within 6 weeks of baseline
• fibrates: within 4 weeks of baseline
• lomitapide: within 8 weeks of baseline
• mipomersen: within 24 weeks of baseline
• History of cirrhosis or chronic liver disease based on documented histological evaluation or non-invasive imaging or testing.
• Abnormal liver function tests (LFTs) at screening (AST (Aspartate aminotransferase) or ALT (Alanine aminotransferase) > 2 × upper limit of normal (ULN) and/or Total Bilirubin of > 1.5 × ULN

Where it is running

• Boca Raton location — Boca Raton, Florida, United States
• Kansas City Location — Kansas City, Kansas, United States
• Portland location — Portland, Oregon, United States
• Philadelphia Location — Philadelphia, Pennsylvania, United States
• Nashville location — Nashville, Tennessee, United States
• Montreal location — Montreal, Quebec, Canada
• Palermo location — Palermo, PA, Italy
• Rome location — Roma, RM, Italy
• Rotterdam location — Rotterdam, Netherlands

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.