Clinical trial NCT04080050: A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
Official title: A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Homozygous Familial Hypercholesterolemia (HoFH)
Keywords: LDL Receptors
Gene Therapy
Metabolic Diseases
Rare Diseases
Genetic Diseases
Atherosclerosis
Cardiovascular Disease
Lead sponsor: REGENXBIO Inc.
Sponsor class: INDUSTRY
First posted: 2019-09-06
Enrollment: 8
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants who have previously received RGX-501 in a separate parent trial

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.

Eligibility criteria: 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

Primary outcomes:
measure: Number of incidents of new and unexpected adverse events and serious adverse events.
timeFrame: Up to 5 years after receiving treatment with RGX-501
Secondary outcomes:
measure: The absolute LDL-C level in mg/dL by beta quantification
timeFrame: Year 3 after receiving treatment with RGX-501
measure: 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
timeFrame: Up to 5 years after receiving treatment with RGX-501
measure: Usage of lipid-lowering therapies over time
timeFrame: Up to 5 years after receiving treatment with RGX-501
Other outcomes:
Locations:
city: Columbus
country: United States
facility: Columbus Location
state: Ohio
city: Portland
country: United States
facility: Portland location
state: Oregon
city: Philadelphia
country: United States
facility: Philadelphia location
state: Pennsylvania
city: Nashville
country: United States
facility: Nashville location
state: Tennessee
city: Montreal
country: Canada
facility: Montreal location
state: Quebec
city: Rotterdam
country: Netherlands
facility: Rotterdam location
Study officials:
References: