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

Active, not recruiting

Interventions: Drug: Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy

Brief 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.

Detailed 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 & 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

Arm && Interventions

Group	Intervention	Description
RGX-501	Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy	Study participants who have received RGX-501 gene therapy in a separate parent trial

Primary Outcome Measures

Name	Time	Method
Number of incidents of new and unexpected adverse events and serious adverse events.	Up to 5 years after receiving treatment with RGX-501	The number of times a new and unexpected adverse event and/or serious adverse event is reported.

Secondary Outcome Measures

Name	Time	Method
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	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
Usage of lipid-lowering therapies over time	Up to 5 years after receiving treatment with RGX-501	Usage of lipid-lowering therapies over time
The absolute LDL-C level in mg/dL by beta quantification	Year 3 after receiving treatment with RGX-501	Absolute LDL-C level by beta quantification at Year 3 after receiving treatment with RGX-501

Locations (6): Columbus Location
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Columbus, Ohio, United States
Philadelphia location
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Philadelphia, Pennsylvania, United States
Montreal location
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Montreal, Quebec, Canada
Nashville location
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Nashville, Tennessee, United States
Rotterdam location
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Rotterdam, Netherlands
Portland location
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Portland, Oregon, United States