Homozygous Familial Hypercholesterolemia (HoFH)NCT04080050
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
An observational study of Homozygous Familial Hypercholesterolemia (HoFH), run by REGENXBIO Inc. at 6 sites in 3 countries.
Trial summary
This long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia (HoFH)
- What is being tested?
- Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy
- Type of treatment
- Injection or infusion
- How many people
- 8 participants
- Where
- 6 sitesin 3 countries
- Study dates
- 30 Sep 2019to 29 Sep 2025
- 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: Participants who have previously received RGX-501 in a separate parent trial
Who may be able to join
- To be eligible to participate in this study, a participant must have previously received RGX-501 in a separate parent trial, and the participant or participant's legal guardian(s) is/(are) willing and able to provide written, signed informed consent after the nature of the study has been explained, prior to any research-related procedures.
Who cannot join
- None
Trial locations and contacts
6 sites in 3 countries.
6 sites in 3 countries
United States4 sites
Columbus Location
Columbus, Ohio, 43210
Nashville location
Nashville, Tennessee, 37232
Philadelphia location
Philadelphia, Pennsylvania, 19104
Portland location
Portland, Oregon, 97239
About this study
This long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease. This study is intended to follow those subjects for up to 5 years since they received treatment to look for any long-term safety concerns. There is no investigational drug or therapy provided as part of this study.
Read the detailed description
Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic metabolic disorder characterized by absent or severely reduced capacity to catabolize circulating LDL particles by the hepatic LDL receptor. As a consequence, HoFH subjects present abnormal total plasma cholesterol (LDL-C) levels, resulting in severe atherosclerosis often leading to early onset of cardiovascular disease. Early initiation of aggressive treatment for these patients is therefore essential. Unfortunately, despite existing therapies, treated LDL-C levels could remain well above acceptable levels. Thus, the functional replacement of the defective LDLR via AAV-based liver-directed gene therapy, RGX-501, may be a viable approach to treat this disease and improve response to current lipid-lowering treatments.
This is a prospective, observational study to evaluate the long-term safety and efficacy after a single administration of RGX-501. Eligible participants are those who previously have enrolled in a clinical study and received a single intravenous infusion of RGX-501.
- Being tested
- Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy
- Keywords
- LDL Receptors, Gene Therapy, Metabolic Diseases, Rare Diseases, Genetic Diseases, Atherosclerosis, Cardiovascular Disease
- Medical subject headings
- Homozygous Familial Hypercholesterolemia, Hyperlipoproteinemia Type II, Metabolic Diseases, Rare Diseases, Genetic Diseases, Inborn, Atherosclerosis, Cardiovascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene TherapyDrug
Also called RGX-501
No investigational product will be administered in this study. All participants have previously received a one-time intravenous infusion of RGX-501 in a separate clinical trial
| Study group | Role | What they receive |
|---|---|---|
| RGX-501 | Study participants who have received RGX-501 gene therapy in a separate parent trial Receives: Drug: Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of incidents of new and unexpected adverse events and serious adverse events.
The number of times a new and unexpected adverse event and/or serious adverse event is reported.
Measured: Up to 5 years after receiving treatment with RGX-501
Secondary outcomes (3)
The absolute LDL-C level in mg/dL by beta quantification
Absolute LDL-C level by beta quantification at Year 3 after receiving treatment with RGX-501
Measured: Year 3 after receiving treatment with RGX-501
Absolute total cholesterol, LDL-C, very low density lipoprotein cholesterol (VLDL-C), high density lipoprotein cholesterol (HDL-C), calculated non-HDL-C, triglycerides (TG), and lipoprotein a (Lp(a)) over the study duration
Absolute total cholesterol, LDL-C, very low density lipoprotein cholesterol (VLDL-C), high density lipoprotein cholesterol (HDL-C), calculated non-HDL-C, triglycerides (TG), and lipoprotein a (Lp(a)) over the study duration
Measured: Up to 5 years after receiving treatment with RGX-501
Usage of lipid-lowering therapies over time
Usage of lipid-lowering therapies over time
Measured: Up to 5 years after receiving treatment with RGX-501
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Sep 2019
- Study start30 Sep 2019
- Primary completion29 Sep 2024 (estimated)
- Study completion29 Sep 2025 (estimated)
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
- 8 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
- NCT04080050
- Sponsor's protocol ID
- RGX-501-102
- Status last verified
- Mar 2023
- First submitted
- 3 Sep 2019
- Last updated
- 9 Mar 2023
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
- ClinicalTrials.gov ID
- NCT04080050
- Acronym / sponsor ID
- RGX-501-102
- Keywords
- LDL Receptors, Gene Therapy, Metabolic Diseases, Rare Diseases, Genetic Diseases, Atherosclerosis, Cardiovascular Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 8 participants (actual)
- Lead sponsor
- REGENXBIO Inc.Industry (pharma, biotech, devices)
- Study start
- 30 Sep 2019 (actual)
- Primary completion
- 29 Sep 2024 (estimated)
- Study completion
- 29 Sep 2025 (estimated)
- First posted
- 6 Sep 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 long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease. This study is intended to follow those subjects for up to 5 years since they received treatment to look for any long-term safety concerns. There is no investigational drug or therapy provided as part of this study.
Detailed description
Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic metabolic disorder characterized by absent or severely reduced capacity to catabolize circulating LDL particles by the hepatic LDL receptor. As a consequence, HoFH subjects present abnormal total plasma cholesterol (LDL-C) levels, resulting in severe atherosclerosis often leading to early onset of cardiovascular disease. Early initiation of aggressive treatment for these patients is therefore essential. Unfortunately, despite existing therapies, treated LDL-C levels could remain well above acceptable levels. Thus, the functional replacement of the defective LDLR via AAV-based liver-directed gene therapy, RGX-501, may be a viable approach to treat this disease and improve response to current lipid-lowering treatments.
This is a prospective, observational study to evaluate the long-term safety and efficacy after a single administration of RGX-501. Eligible participants are those who previously have enrolled in a clinical study and received a single intravenous infusion of RGX-501.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| RGX-501 | – | Drug: Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene TherapyStudy participants who have received RGX-501 gene therapy in a separate parent trial |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants who have previously received RGX-501 in a separate parent trial
Key inclusion criteria (1 listed)
- To be eligible to participate in this study, a participant must have previously received RGX-501 in a separate parent trial, and the participant or participant's legal guardian(s) is/(are) willing and able to provide written, signed informed consent after the nature of the study has been explained, prior to any research-related procedures.
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene TherapyAlso: RGX-501No investigational product will be administered in this study. All participants have previously received a one-time intravenous infusion of RGX-501 in a separate clinical trial | Drug | RGX-501 |
Primary outcome
Number of incidents of new and unexpected adverse events and serious adverse events.
Time frame: Up to 5 years after receiving treatment with RGX-501
The number of times a new and unexpected adverse event and/or serious adverse event is reported.
3 secondary outcomes
The absolute LDL-C level in mg/dL by beta quantification
Time frame: Year 3 after receiving treatment with RGX-501
Absolute total cholesterol, LDL-C, very low density lipoprotein cholesterol (VLDL-C), high density lipoprotein cholesterol (HDL-C), calculated non-HDL-C, triglycerides (TG), and lipoprotein a (Lp(a)) over the study duration
Time frame: Up to 5 years after receiving treatment with RGX-501
Usage of lipid-lowering therapies over time
Time frame: Up to 5 years after receiving treatment with RGX-501
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Mar 2023.
- 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.
6 sites in 3 countries: 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 6 sites in 3 countries.
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 1 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 9 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, Canada, Netherlands. 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?
Results are not available in the source record.
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?
Number of incidents of new and unexpected adverse events and serious adverse events. (time frame: Up to 5 years after receiving treatment with RGX-501). 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 9 Mar 2023.