Gaucher DiseaseNCT06488261
Long Term Follow-Up for Safety of AVR-RD-02
An observational study of Gaucher Disease, run by John Bernat at 1 site in United States.
Trial summary
The goal of this observational study is to assess the safety and tolerability of AVR-RD-02 treatment in subjects who previously received AVR-RD-02 treatment (single dose administration). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- AVR-RD-02
- How many people
- 2 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Feb 2024to Oct 2037
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: Subjects with Gaucher disease who previously received the investigational gene therapy product AVR-RD-02
Who may be able to join
- Subjects must meet all of the following inclusion criteria for participation in this study:
- Subject must be willing and able to provide written informed consent for the JAB-GD-001 study in accordance with applicable regulations and guidelines and to comply with all study visits and procedures.
- Subject must have been enrolled in the preceding AVROBIO AVRO-RD-02-201 treatment study and have received AVR-RD-02 treatment
Who cannot join
- Subject has any medical, psychological, or other condition that, in the opinion of the Investigator:
- Might interfere with the subject's participation in the study (including consenting to procedures); and/or
- Poses any additional risk to the subject; and/or
- Might confound the results of any study-required assessments.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Iowa Hospitals and Clinics
Iowa City, Iowa, 52242
About this study
Official title: A Long-Term Follow-Up Safety Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02
The goal of this observational study is to assess the safety and tolerability of AVR-RD-02 treatment in subjects who previously received AVR-RD-02 treatment (single dose administration).
Read the detailed description
Subjects who received AVR-RD-02 in the preceding treatment study (NCT04145037) and who meet all eligibility criteria may participate. Subjects will be asked to return for study visits annually for 14 years to assess measures of safety and persistence of AVR-RD-02 treatment.
- Conditions
- Gaucher Disease
- Being tested
- AVR-RD-02
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AVR-RD-02Biological
No study drug is administered in this study. Subjects who received AVR-RD-02 in a separate parent trial will be evaluated in this trial for long-term safety.
| Study group | Role | What they receive |
|---|---|---|
| Subjects who received AVR-RD-02 | Subjects who received AVR-RD-02 in a separate parent trial Receives: Biological: AVR-RD-02 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of newly diagnosed malignancy, hematologic disorder, and/or autoimmune or rheumatologic disorder
Measured: Baseline to Year 14
Change from baseline over time in hemoglobin concentration
Measured: Baseline to Year 14
Change from baseline over time in platelet count
Measured: Baseline to Year 14
Secondary outcomes (5)
Change from baseline over time in glucocerebrosidase (GCase) enzyme activity in whole blood
Measured: Baseline to Year 14
Average vector copy number (VCN) from whole blood using quantitative polymerase chain reaction (qPCR) analysis
Measured: Baseline to Year 14
Change from baseline over time in anti-GCase total antibodies and subsequent titers
Measured: Baseline to Year 14
Identification of potential aberrant clonal expansion(s) assessed by performing insertional site analysis (ISA) from whole blood
Measured: Baseline to Year 14
Presence of replication competent lentivirus (RCL)
Measured: Baseline to Year 14
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jul 2024
- Study start21 Feb 2024
- Primary completionJun 2037 (estimated)
- Study completionOct 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies 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
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- John Bernat
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, John Bernat, University of Iowa
- Investigators
- John A. Bernat, MD, PhD, Principal investigator, University of Iowa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06488261
- Sponsor's protocol ID
- 202309221
- Status last verified
- Jul 2025
- First submitted
- 20 Nov 2023
- Last updated
- 22 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-Term Follow-Up Safety Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02
- ClinicalTrials.gov ID
- NCT06488261
- Acronym / sponsor ID
- 202309221
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 2 participants (actual)
- Lead sponsor
- John BernatUniversity, hospital or other
- Study start
- 21 Feb 2024 (actual)
- Primary completion
- Jun 2037 (estimated)
- Study completion
- Oct 2037 (estimated)
- First posted
- 5 Jul 2024 (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.
The goal of this observational study is to assess the safety and tolerability of AVR-RD-02 treatment in subjects who previously received AVR-RD-02 treatment (single dose administration).
Detailed description
Subjects who received AVR-RD-02 in the preceding treatment study (NCT04145037) and who meet all eligibility criteria may participate. Subjects will be asked to return for study visits annually for 14 years to assess measures of safety and persistence of AVR-RD-02 treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects who received AVR-RD-02 | – | Biological: AVR-RD-02Subjects who received AVR-RD-02 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
- Subjects with Gaucher disease who previously received the investigational gene therapy product AVR-RD-02
Key inclusion criteria (3 listed)
- Subjects must meet all of the following inclusion criteria for participation in this study:
- Subject must be willing and able to provide written informed consent for the JAB-GD-001 study in accordance with applicable regulations and guidelines and to comply with all study visits and procedures.
- Subject must have been enrolled in the preceding AVROBIO AVRO-RD-02-201 treatment study and have received AVR-RD-02 treatment
Key exclusion criteria (4 listed)
- Subject has any medical, psychological, or other condition that, in the opinion of the Investigator:
- Might interfere with the subject's participation in the study (including consenting to procedures); and/or
- Poses any additional risk to the subject; and/or
- Might confound the results of any study-required assessments.
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 |
|---|---|---|
| AVR-RD-02No study drug is administered in this study. Subjects who received AVR-RD-02 in a separate parent trial will be evaluated in this trial for long-term safety. | Biological | Subjects who received AVR-RD-02 |
Primary outcome
Incidence of newly diagnosed malignancy, hematologic disorder, and/or autoimmune or rheumatologic disorder
Time frame: Baseline to Year 14
Change from baseline over time in hemoglobin concentration
Time frame: Baseline to Year 14
Change from baseline over time in platelet count
Time frame: Baseline to Year 14
5 secondary outcomes
Change from baseline over time in glucocerebrosidase (GCase) enzyme activity in whole blood
Time frame: Baseline to Year 14
Average vector copy number (VCN) from whole blood using quantitative polymerase chain reaction (qPCR) analysis
Time frame: Baseline to Year 14
Change from baseline over time in anti-GCase total antibodies and subsequent titers
Time frame: Baseline to Year 14
Identification of potential aberrant clonal expansion(s) assessed by performing insertional site analysis (ISA) from whole blood
Time frame: Baseline to Year 14
Presence of replication competent lentivirus (RCL)
Time frame: Baseline to Year 14
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jul 2025.
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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.
John A. Bernat, MD, PhD principal investigator
University of Iowa
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 Gaucher Disease, run by John Bernat 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 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: under way, not looking for participants, as of the sponsor's last update on 22 Jul 2025. 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?
This study is still under way. Results are not available in the source record yet.
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?
Incidence of newly diagnosed malignancy, hematologic disorder, and/or autoimmune or rheumatologic disorder (time frame: Baseline to Year 14). The study lists 3 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 22 Jul 2025.