Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

Completed

Conditions studied: Homozygous Familial Hypercholesterolemia (HoFH)

In brief

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

Key facts

Study ID

NCT04148001

Run by

REGENXBIO Inc.

People needed

4

Starts

2019-12-04

Expected to finish

2020-04-08

Last updated by the study team

2021-02-02

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

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

Where it is running

• Excel Medical Clinical Trials, LLC — Boca Raton, Florida, United States

Full record on ClinicalTrials.gov

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