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Completed

NCT Number: NCT04148001

Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

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

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Key information

Conditions

Homozygous Familial Hypercholesterolemia (HoFH) Arterial Occlusive Diseases Arteriosclerosis Atherosclerosis Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Dyslipidemias Genetic Diseases, Inborn Homozygous Familial Hypercholesterolemia Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Excel Medical Clinical Trials, LLC

Boca Raton, Florida, 33434, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

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

    Time frame: 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 outcomes

  1. The measurement of AAV8 NAb titers

    Time frame: baseline

    The measurement of anti-AAV8 (adeno-associated virus serotype 8) neutralizing antibody (NAb) titers

  2. 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])

    Time frame: 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]).

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

    Time frame: baseline

    The number and types of lipid lowering therapies, including LDL-C apheresis, the participant has been on or is currently on

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

    Time frame: baseline

    Collection of the participant's relevant medical history

Sponsors and collaborators

Lead sponsor

REGENXBIO Inc.

Industry

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2020
Study completion
2020
First posted
Nov 1, 2019
Registry last updated
Feb 2, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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