Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

NCT04148001 | Completed

• 1 other identifier: RGX-501-9101
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

Brief Summary

This study is designed to help identify patients with HoFH due to mutations in the LDLR as confirmed by genotyping.

Conditions

Homozygous Familial Hypercholesterolemia (HoFH)

Keywords

LDL Receptors; Gene Therapy; Metabolic Diseases; Rare Diseases; Genetic Diseases; Atherosclerosis; Cardiovascular Disease; Genotype

Outcome Measures

Primary Outcomes (1)

• The number of participants who have HoFH due to mutations in the LDLR gene measured by genetic testing

  The number of participants who have HoFH due to mutations in the LDLR (low density lipoprotein receptor) gene as confirmed by genetic testing.

  baseline

Secondary Outcomes (4)

• The measurement of AAV8 NAb titers

  baseline

• The measurement of LDL-C, total cholesterol, very low density lipoprotein cholesterol (VLDL-C), non-high density lipoprotein cholesterol (non-HDL-C), high density lipoprotein cholesterol (HDL-C), triglycerides (TG), and lipoprotein a (Lp[a])

  baseline

• The number and types of the participant's current and historical lipid lowering therapies

  baseline

• The participant's completion of the medical history questionnaire to determine relevant medical history

  baseline

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Males and females ≥ 18 years of age

You may qualify if:

• Males and females ≥ 18 years of age
• Clinical presentation consistent with HoFH

You may not qualify if:

• History of cirrhosis based on documented histological evaluation or noninvasive imaging
• Documented diagnosis of liver diseases
• History of immunodeficiency diseases, including a positive HIV test result
• Previous organ transplantation

Sponsors & Collaborators

• REGENXBIO Inc.: lead

Study Sites (1)

Excel Medical Clinical Trials, LLC

Boca Raton, Florida, 33434, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Designed to help identify patients with HoFH due to mutations in the LDLR as confirmed by genotyping.

MeSH Terms

Conditions

Homozygous Familial Hypercholesterolemia; Hyperlipoproteinemia Type II; Metabolic Diseases; Rare Diseases; Genetic Diseases, Inborn; Atherosclerosis; Cardiovascular Diseases

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 11, 2019
• First Posted: November 1, 2019
• Study Start: December 4, 2019
• Primary Completion: April 8, 2020
• Study Completion: April 8, 2020
• Last Updated: February 2, 2021

Record last verified: 2021-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)