Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
1 other identifier
observational
21
1 country
1
Brief Summary
The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Mar 2016
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 1, 2016
CompletedFirst Submitted
Initial submission to the registry
January 10, 2017
CompletedFirst Posted
Study publicly available on registry
January 12, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 30, 2017
CompletedStudy Completion
Last participant's last visit for all outcomes
December 3, 2019
CompletedMarch 6, 2020
March 1, 2020
1.2 years
January 10, 2017
March 4, 2020
Conditions
Outcome Measures
Primary Outcomes (2)
genetic analysis
identification of genetic, confirmation of FH
Screening phase
Neutralizing antibodies
identification of subjects with no or minimal neutralizing antibodies titer \<= 1:10
Screening phase
Study Arms (1)
Patients with HOFH
No intervention
Eligibility Criteria
Patients with clinical diagnosis compatible with homozygous familial hypercholesterolemia (HoFH)
You may qualify if:
- Males and females ≥ 18 years of age
- Clinical presentation consistent with homozygous FH
- Subjects must be able to comprehend and willing to provide a signed IRB approved Informed Consent Form
You may not qualify if:
- Known to carry confirmed mutations in genes affecting LDL receptor functionality other than the LDLR gene
- History of cirrhosis based on documented histological evaluation or non-invasive imaging
- Documented diagnosis of any of the following liver diseases: Hepatitis B or C; Biopsy-proven nonalcoholic steatohepatitis; Biopsy-proven alcoholic liver disease; Autoimmune hepatitis; Primary biliary cirrhosis; Primary sclerosing cholangitis; Wilson's disease; Hemochromatosis; alpha1 anti-trypsin deficiency
- History of immunodeficiency diseases, including a positive HIV test result
- Previous organ transplantation
- Serious or unstable medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study
- Inability to participate
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University of Pennsylvania
Philadelphia, Pennsylvania, 19104, United States
Biospecimen
Nab titer samples are retained, but there is no potential for DNA extraction.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Marina Cuchel, MD, PhD
Associate Professor
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 10, 2017
First Posted
January 12, 2017
Study Start
March 1, 2016
Primary Completion
May 30, 2017
Study Completion
December 3, 2019
Last Updated
March 6, 2020
Record last verified: 2020-03
Data Sharing
- IPD Sharing
- Will share
- Time Frame
- Has been open until 2015. Data is open until decided.
- Access Criteria
- Data will be de-identified prior to sharing with other entities.
The following entities may use or share information: (1) the investigator for the study and the study team, (2) the University of Pennsylvania Institutional Review Boards (the committees who oversee research on human subjects) and University of Pennsylvania Office of Regulatory Affairs, (3) The University of Pennsylvania Office of Clinical Research (the office which monitors research studies), and (4) authorized members of the University of Pennsylvania and the University of Pennsylvania Health System and School of Medicine workforce who may need to access your information in the performance of their duties (for example: to provide treatment, to ensure integrity of the research, accounting or billing matters, etc).