Hypercholesterolemia, FamilialNCT03018678
Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
An observational study of Hypercholesterolemia, Familial, run by University of Pennsylvania at 1 site in United States.
Trial summary
The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hypercholesterolemia, Familial
- How many people
- 21 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2016to 3 Dec 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with clinical diagnosis compatible with homozygous familial hypercholesterolemia (HoFH)
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH.
Read the detailed description
Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic metabolic disorder characterized by markedly elevated LDL-cholesterol (LDL-C) levels, resulting in severe atherosclerosis often leading to early onset of cardiovascular disease. The most frequent cause is mutation in the LDL receptor gene (LDLR). LDL-C levels remain frequently above acceptable levels despite treatment with multiple existing lipid lowering drugs and/or LDL apheresis. Thus, the functional replacement of the defective LDLR via AAV-based liver-directed gene therapy may be a viable approach to treat this disease and improve response to current lipid-lowering treatments. The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial. No study drug will be administered in this screening study.
- Conditions
- Hypercholesterolemia, Familial
- Medical subject headings
- Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with HOFH | No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
genetic analysis
identification of genetic, confirmation of FH
Measured: Screening phase
Neutralizing antibodies
identification of subjects with no or minimal neutralizing antibodies titer <= 1:10
Measured: Screening phase
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2017 (estimated)
- Study startMar 2016
- Primary completion30 May 2017
- Study completion3 Dec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypercholesterolemia, FamilialStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marina Cuchel, MD, PhD, Principal investigator, Associate Professor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03018678
- Sponsor's protocol ID
- 822899
- Status last verified
- Mar 2020
- First submitted
- 10 Jan 2017
- Last updated
- 6 Mar 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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).
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
- ClinicalTrials.gov ID
- NCT03018678
- Acronym / sponsor ID
- 822899
- Conditions
- Hypercholesterolemia, Familial
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 21 participants (actual)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Study start
- Mar 2016
- Primary completion
- 30 May 2017 (actual)
- Study completion
- 3 Dec 2019 (actual)
- First posted
- 12 Jan 2017 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for HoFH.
Detailed description
Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic metabolic disorder characterized by markedly elevated LDL-cholesterol (LDL-C) levels, resulting in severe atherosclerosis often leading to early onset of cardiovascular disease. The most frequent cause is mutation in the LDL receptor gene (LDLR). LDL-C levels remain frequently above acceptable levels despite treatment with multiple existing lipid lowering drugs and/or LDL apheresis. Thus, the functional replacement of the defective LDLR via AAV-based liver-directed gene therapy may be a viable approach to treat this disease and improve response to current lipid-lowering treatments. The purpose of this protocol is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial. No study drug will be administered in this screening study.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with HOFH | – | –No intervention |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with clinical diagnosis compatible with homozygous familial hypercholesterolemia (HoFH)
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
genetic analysis
Time frame: Screening phase
identification of genetic, confirmation of FH
Neutralizing antibodies
Time frame: Screening phase
identification of subjects with no or minimal neutralizing antibodies titer <= 1:10
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2020.
- Individual participant dataSharing planned: Yes. 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).
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Marina Cuchel, MD, PhD principal investigator
Associate Professor
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypercholesterolemia, Familial, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Mar 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
genetic analysis (time frame: Screening phase). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2020.