Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04148001

Enrollment

Registered

2019-11-01

Start date

2019-12-04

Completion date

2020-04-08

Last updated

2021-02-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Homozygous Familial Hypercholesterolemia (HoFH)

Keywords

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

Brief summary

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

Detailed 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

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

Secondary

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

Countries

United States

Outcome results