Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

Homozygous Familial Hypercholesterolemia (HoFH) Clinical Trial

Official title:

Clinical and Laboratory Assessment Study of Patients With a Clinical Presentation Consistent With Homozygous Familial Hypercholesterolemia (HoFH)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04148001
• Other study ID #: RGX-501-9101
• Status: Completed
• Start date: December 4, 2019
• Est. completion date: April 8, 2020

Study information

• Verified date: January 2021
• Source: Regenxbio Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Description:

This is a non-interventional study; no investigational product is administered in this study. Information collected in this study may be used to identify potential participants for clinical gene therapy trials in HoFH.

The investigator will discuss the study with participants who have a clinical presentation consistent with HoFH and where possible, the treating physician, in order to assess their interest to participate. After informed consent has been obtained, participants will be asked to provide a blood sample (up to 40 mL) for genotyping to confirm genetic diagnosis of HoFH due to mutations in LDLR, a lipid panel and anti-AAV8 NAb titer. Participants and, whenever possible, their treating physician will complete a medical history questionnaire and provide supporting documentation. The informed consent form (ICF) and data collection methods may vary depending whether the informed consent is obtained remotely or at a participating study site.

Information collected will include the following:

• patient demographics (age, sex, weight)

• medical history

• previous genotype results (if available)

• results of most recent lipid panel(s)

• use of lipid lowering therapies, including failure to respond

• assessment of presence of liver disease, including history of hepatitis B and C, human immunodeficiency virus (HIV), cirrhosis, and alcohol use

Once this information is received by the investigator and Sponsor, a preliminary assessment of confirmation of a diagnosis of HoFH will be performed. Participants and/or their treating physician will be informed of the results of the genetic testing. All participants will be provided an opportunity to speak with a genetic counselor upon receiving the results of the genetic testing.

Data collected in this study may be used to identify potential candidates for separate clinical trial(s) using gene therapy.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4
• Est. completion date: April 8, 2020
• Est. primary completion date: April 8, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

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

Related Conditions & MeSH terms

• Homozygous Familial Hypercholesterolemia (HoFH)
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Locations

Country	Name	City	State
United States	Excel Medical Clinical Trials, LLC	Boca Raton	Florida

Sponsors (1)

Lead Sponsor	Collaborator
Regenxbio Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	The measurement of AAV8 NAb titers	The measurement of anti-AAV8 (adeno-associated virus serotype 8) neutralizing antibody (NAb) titers	baseline
Secondary	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])	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
Secondary	The number and types of the participant's current and historical lipid lowering therapies	The number and types of lipid lowering therapies, including LDL-C apheresis, the participant has been on or is currently on	baseline
Secondary	The participant's completion of the medical history questionnaire to determine relevant medical history	Collection of the participant's relevant medical history	baseline