A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)

• Register: ClinicalTrials.gov
• Last refreshed on: 8 February 2021
• Main ID: NCT02651675
• Date of registration: 04/01/2016
• Prospective Registration: Yes
• Primary sponsor: Regenxbio Inc.
• Public title: A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
• Scientific title: AAV8-mediated Low Density Lipoprotein Receptor (LDLR) Gene Replacement in Subjects With Homozygous Familial Hypercholesterolemia (HoFH)
• Date of first enrolment: March 2016
• Target sample size: 9
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT02651675
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

Canada, Italy, Netherlands, United States

Key inclusion & exclusion criteria

Inclusion Criteria:

- Male or female = 18 years of age.

- Untreated and/or treated LDL-C levels and clinical presentation consistent with the
diagnosis of homozygous FH

- Molecularly defined LDLR mutations at both LDLR alleles.

- A baseline serum AAV8 NAb titer = 1:10.

Exclusion Criteria

- Unwilling to wash out of the following lipid lowering therapies for the pre-specified
time period:

1. niacin > 250 mg/day: within 6 weeks of baseline

2. fibrates: within 4 weeks of baseline

3. lomitapide: within 8 weeks of baseline

4. 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 or ALT > 2 × upper limit of
normal (ULN) and/or Total Bilirubin of > 1.5 × ULN



Age minimum: 18 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Homozygous Familial Hypercholesterolemia (HoFH)

Intervention(s)

Biological: AAV directed hLDLR gene therapy

Primary Outcome(s)

Number of participants experiencing investigational product-related adverse events [Time Frame: Up to 24 weeks]

Secondary Outcome(s)

Number of participants experiencing investigational product-related adverse events [Time Frame: up to 104 weeks]

Percent change in lipid parameters compared to baseline values [Time Frame: 18 weeks, 12 weeks for cohort 1 only, compared to baseline.]

Amount of vector shedding [Time Frame: up to 104 weeks]

Percent change in in LDL-C [Time Frame: 18 weeks, 12 weeks for cohort 1 only, compared to baseline.]

Secondary ID(s)

P01HL059407

FHGT002

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

National Heart, Lung, and Blood Institute (NHLBI)