Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

Plain-language summary

This study aims to identify patients with homozygous familial hypercholesterolemia, an inherited high-cholesterol disorder, and to examine their genetic makeup (genotyping). It enrolled people aged 18 and over whose clinical presentation was consistent with this disease. The study was a non-phased study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

REGENXBIO Inc.

Start date

12/4/2019

Estimated completion

4/8/2020

Countries

United States

Related genes

Locations

• Boca Raton, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. Males and females ≥ 18 years of age
2. Clinical presentation consistent with HoFH

Exclusion Criteria:

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