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Trial record 5 of 17 for:    Recruiting, Active, not recruiting, Enrolling by invitation Studies | Familial Hypercholesterolaemia - Homozygous

Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04148001
Recruitment Status : Active, not recruiting
First Posted : November 1, 2019
Last Update Posted : April 22, 2020
Sponsor:
Information provided by (Responsible Party):
Regenxbio Inc.

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

Condition or disease
Homozygous Familial Hypercholesterolemia (HoFH)

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.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Laboratory Assessment Study of Patients With a Clinical Presentation Consistent With Homozygous Familial Hypercholesterolemia (HoFH)
Actual Study Start Date : December 4, 2019
Estimated Primary Completion Date : December 30, 2020
Estimated Study Completion Date : December 30, 2020

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  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 Outcome Measures :
  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


Biospecimen Retention:   Samples With DNA
Designed to help identify patients with HoFH due to mutations in the LDLR as confirmed by genotyping.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Males and females ≥ 18 years of age
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04148001


Locations
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United States, Florida
Excel Medical Clinical Trials, LLC
Boca Raton, Florida, United States, 33434
Sponsors and Collaborators
Regenxbio Inc.
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Responsible Party: Regenxbio Inc.
ClinicalTrials.gov Identifier: NCT04148001    
Other Study ID Numbers: RGX-501-9101
First Posted: November 1, 2019    Key Record Dates
Last Update Posted: April 22, 2020
Last Verified: April 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Regenxbio Inc.:
LDL Receptors
Gene Therapy
Metabolic Diseases
Rare Diseases
Genetic Diseases
Atherosclerosis
Cardiovascular Disease
Genotype
Additional relevant MeSH terms:
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Hyperlipoproteinemia Type II
Hypercholesterolemia
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias