A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501

Homozygous Familial Hypercholesterolemia (HoFH) Clinical Trial

Official title:

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04080050
• Other study ID #: RGX-501-102
• Status: Active, not recruiting
• Start date: September 30, 2019
• Est. completion date: September 29, 2025

Study information

• Verified date: March 2023
• Source: REGENXBIO Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease. This study is intended to follow those subjects for up to 5 years since they received treatment to look for any long-term safety concerns. There is no investigational drug or therapy provided as part of this study.

Description:

Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic metabolic disorder characterized by absent or severely reduced capacity to catabolize circulating LDL particles by the hepatic LDL receptor. As a consequence, HoFH subjects present abnormal total plasma cholesterol (LDL-C) levels, resulting in severe atherosclerosis often leading to early onset of cardiovascular disease. Early initiation of aggressive treatment for these patients is therefore essential. Unfortunately, despite existing therapies, treated LDL-C levels could remain well above acceptable levels. Thus, the functional replacement of the defective LDLR via AAV-based liver-directed gene therapy, RGX-501, may be a viable approach to treat this disease and improve response to current lipid-lowering treatments.

This is a prospective, observational study to evaluate the long-term safety and efficacy after a single administration of RGX-501. Eligible participants are those who previously have enrolled in a clinical study and received a single intravenous infusion of RGX-501.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 8
• Est. completion date: September 29, 2025
• Est. primary completion date: September 29, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• To be eligible to participate in this study, a participant must have previously received RGX-501 in a separate parent trial, and the participant or participant's legal guardian(s) is/(are) willing and able to provide written, signed informed consent after the nature of the study has been explained, prior to any research-related procedures.

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Homozygous Familial Hypercholesterolemia (HoFH)
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Drug:
• Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy
No investigational product will be administered in this study. All participants have previously received a one-time intravenous infusion of RGX-501 in a separate clinical trial

Locations

Country	Name	City	State
Canada	Montreal location	Montreal	Quebec
Netherlands	Rotterdam location	Rotterdam
United States	Columbus Location	Columbus	Ohio
United States	Nashville location	Nashville	Tennessee
United States	Philadelphia location	Philadelphia	Pennsylvania
United States	Portland location	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
REGENXBIO Inc.

Countries where clinical trial is conducted

United States,  Canada,  Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of incidents of new and unexpected adverse events and serious adverse events.	The number of times a new and unexpected adverse event and/or serious adverse event is reported.	Up to 5 years after receiving treatment with RGX-501
Secondary	The absolute LDL-C level in mg/dL by beta quantification	Absolute LDL-C level by beta quantification at Year 3 after receiving treatment with RGX-501	Year 3 after receiving treatment with RGX-501
Secondary	Absolute total cholesterol, LDL-C, very low density lipoprotein cholesterol (VLDL-C), high density lipoprotein cholesterol (HDL-C), calculated non-HDL-C, triglycerides (TG), and lipoprotein a (Lp(a)) over the study duration	Absolute total cholesterol, LDL-C, very low density lipoprotein cholesterol (VLDL-C), high density lipoprotein cholesterol (HDL-C), calculated non-HDL-C, triglycerides (TG), and lipoprotein a (Lp(a)) over the study duration	Up to 5 years after receiving treatment with RGX-501
Secondary	Usage of lipid-lowering therapies over time	Usage of lipid-lowering therapies over time	Up to 5 years after receiving treatment with RGX-501