Homozygous Familial Hypercholesterolemia (HoFH)NCT04148001
Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients
An observational study of Homozygous Familial Hypercholesterolemia (HoFH), run by REGENXBIO Inc. at 1 site in United States.
Trial summary
This study is designed to help identify patients with HoFH due to mutations in the LDLR as confirmed by genotyping. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia (HoFH)
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Dec 2019to 8 Apr 2020
- 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: Males and females ≥ 18 years of age
Who may be able to join
- Males and females ≥ 18 years of age
- Clinical presentation consistent with HoFH
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Excel Medical Clinical Trials, LLC
Boca Raton, Florida, 33434
About this study
Official title: Clinical and Laboratory Assessment Study of Patients With a Clinical Presentation Consistent With Homozygous Familial Hypercholesterolemia (HoFH)
This study is designed to help identify patients with HoFH due to mutations in the LDLR as confirmed by genotyping.
Read the 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.
- Keywords
- LDL Receptors, Gene Therapy, Metabolic Diseases, Rare Diseases, Genetic Diseases, Atherosclerosis, Cardiovascular Disease, Genotype
- Medical subject headings
- Homozygous Familial Hypercholesterolemia, Hyperlipoproteinemia Type II, Metabolic Diseases, Rare Diseases, Genetic Diseases, Inborn, Atherosclerosis, Cardiovascular Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
The number of participants who have HoFH due to mutations in the LDLR gene measured by genetic testing
The number of participants who have HoFH due to mutations in the LDLR (low density lipoprotein receptor) gene as confirmed by genetic testing.
Measured: baseline
Secondary outcomes (4)
The measurement of AAV8 NAb titers
The measurement of anti-AAV8 (adeno-associated virus serotype 8) neutralizing antibody (NAb) titers
Measured: 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 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]).
Measured: baseline
The number and types of the participant's current and historical lipid lowering therapies
The number and types of lipid lowering therapies, including LDL-C apheresis, the participant has been on or is currently on
Measured: baseline
The participant's completion of the medical history questionnaire to determine relevant medical history
Collection of the participant's relevant medical history
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2019
- Study start4 Dec 2019
- Primary completion8 Apr 2020
- Study completion8 Apr 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Homozygous Familial Hypercholesterolemia (HoFH)Studies of the same condition, open and under way.
- 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
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- REGENXBIO Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04148001
- Sponsor's protocol ID
- RGX-501-9101
- Status last verified
- Jan 2021
- First submitted
- 11 Oct 2019
- Last updated
- 2 Feb 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Laboratory Assessment Study of Patients With a Clinical Presentation Consistent With Homozygous Familial Hypercholesterolemia (HoFH)
- ClinicalTrials.gov ID
- NCT04148001
- Acronym / sponsor ID
- RGX-501-9101
- Keywords
- LDL Receptors, Gene Therapy, Metabolic Diseases, Rare Diseases, Genetic Diseases, Atherosclerosis, Cardiovascular Disease, Genotype
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- REGENXBIO Inc.Industry (pharma, biotech, devices)
- Study start
- 4 Dec 2019 (actual)
- Primary completion
- 8 Apr 2020 (actual)
- Study completion
- 8 Apr 2020 (actual)
- First posted
- 1 Nov 2019 (actual)
- 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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Males and females ≥ 18 years of age
Key inclusion criteria (2 listed)
- Males and females ≥ 18 years of age
- Clinical presentation consistent with HoFH
Key exclusion criteria (4 listed)
- 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
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
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.
4 secondary outcomes
The measurement of AAV8 NAb titers
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])
Time frame: baseline
The number and types of the participant's current and historical lipid lowering therapies
Time frame: baseline
The participant's completion of the medical history questionnaire to determine relevant medical history
Time frame: baseline
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 2 Feb 2021.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Homozygous Familial Hypercholesterolemia (HoFH), run by REGENXBIO Inc. 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 2 inclusion and 4 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 2 Feb 2021. 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?
The number of participants who have HoFH due to mutations in the LDLR gene measured by genetic testing (time frame: baseline). 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 2 Feb 2021.