Type 1 Gaucher DiseaseNCT04836377
A Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02
An observational study of Type 1 Gaucher Disease, run by AVROBIO at 3 sites in 2 countries.
Trial summary
This is a multicenter, multinational long-term follow-up study to assess the long-term safety and durability of effect 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 to 99 years
- Conditions the study is for
- Type 1 Gaucher Disease
- What is being tested?
- Safety and efficacy assessments
- How many people
- 4 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 6 Jul 2021to 21 Aug 2023
- 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 to 99 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: To permit longitudinal assessment of safety, efficacy and durability of effect of AVR-RD-02 gene therapy infusion in the AVRO-RD-02-LTF01 study, subjects must have received AVR-RD-02 in a preceding treatment study and agree to comply with the study visit schedule and procedures for AVRO-RD-02-LTF01 for inclusion in the Long-Term Follow-Up study.
Who may be able to join
- Subject must have been enrolled and received AVR-RD-02 as single dose administration
- Subject must be willing and able to provide written informed consent for the AVRO-RD-02-LTF01 study in accordance with applicable regulations and guidelines and to comply with all study visits and procedures.
Who cannot join
- Subject is currently enrolled in an AVROBIO-sponsored AVR-RD-02 treatment study.
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
United States2 sites
Hackensack University Medical Center
Hackensack, New Jersey, 07601
University of Iowa
Iowa City, Iowa, 52242
About this study
This is a multicenter, multinational long-term follow-up study to assess the long-term safety and durability of effect 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 and who meet all eligibility criteria may participate in the AVRO-RD-02-LTF01 study. For individual participating subjects, the Baseline visit for the AVRO-RD-02-LTF01 study will coincide with the subject's last visit in the preceding treatment study, whenever feasible. Subjects will be asked to return for study visits at approximately 6-month intervals for the first 4 years of the study and then annually thereafter for 10 years (for a total follow-up of 14 years in this study), during which time periodic safety and efficacy assessments will be performed to assess measures of safety, engraftment, and clinical response after AVR-RD-02 treatment.
- Conditions
- Type 1 Gaucher Disease
- Being tested
- Safety and efficacy assessments
- Keywords
- Gaucher, Guard1
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Safety and efficacy assessmentsOther
Also called Gene Therapy Intervention
Safety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention
| Study group | Role | What they receive |
|---|---|---|
| Subjects with Gaucher 1 Disease | This is a long-term follow-up study of subjects who previously received AVR-RD-02 (single dose administration) in a preceding treatment study. No investigational product will be administered in this study. Receives: Other: Safety and efficacy assessments |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline over time in spleen volume as assessed by abdominal Magnetic Resonance Imaging (MRI)
Measured: Baseline to Year 15 post gene therapy infusion
Baseline over time in liver volume as assessed by abdominal MRI
Measured: Baseline to Year 15 post gene therapy infusion
Baseline over time in hemoglobin
Measured: Baseline to Year 15 post gene therapy infusion
Change from Baseline over time in platelet count
Measured: Baseline to Year 15 post gene therapy infusion
Change from Baseline in plasma lyso-Gb1 levels by liquid chromatography tandem mass spectrometry (LC/MS/MS)
Measured: Baseline to Year 15 post gene therapy infusion
Incidence of newly-diagnosed malignancy, hematologic disorder, and/or immune related events/immunogenicity
Measured: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities as assessed by vital signs
Measured: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by physical examinations findings
Measured: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by clinical laboratory tests
Measured: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by electrocardiograms (ECGs)
Measured: Baseline to Year 15 post gene therapy infusion
Secondary outcomes (9)
Change from baseline over time in glucocerebrosidase (GCase) GCase enzyme activity level in
Measured: Baseline to Year 15 post gene therapy infusion
Change from baseline over time in Enzyme Replacement Therapy (ERT) frequency and dosing
Measured: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher biomarker indices of Gaucher disease in chitotriosidase enzyme activity levels in plasma
Measured: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher biomarker indices of Gaucher disease in bone marrow burden (BMB) score as assessed by bone MRI
Measured: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher biomarker indices of Gaucher disease in bone mineral density (BMD) as assessed by dual-energy X-ray absorptiometry (DXA)
Measured: Baseline to Year 15 post gene therapy infusion
Average Vector Copy Number (VCN) in bone marrow aspirate as assessed by quantitative polymerase chain reaction (qPCR) and/or droplet digital polymerase chain reaction (ddPCR)
Measured: Baseline to Year 15 post gene therapy infusion
Change from Baseline in anti-GCase total antibodies and subsequent titers by an electrochemiluminescence method
Measured: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher disease in potential aberrant clonal expansion(s) assessed by performing insertional site analysis (ISA)
Measured: Baseline to Year 15 post gene therapy infusion
Presence of replication competent lentivirus (RCL)
Measured: Baseline to Year 15 post gene therapy infusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2021
- Study start6 Jul 2021
- Primary completion21 Aug 2023
- Study completion21 Aug 2023
Why it stopped: This study was voluntarily terminated due to a business decision not to proceed, and not due to any safety or efficacy issue
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Type 1 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
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- AVROBIO
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Milena Veselinovic, MD, Study director, AVROBIO
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04836377
- Sponsor's protocol ID
- AVRO-RD-02-LTF01
- Status last verified
- Sep 2022
- First submitted
- 23 Mar 2021
- Last updated
- 29 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: To keep consistent with the current treatment listing
Study at a glance
From the registry record, last updated by the sponsor on 29 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02
- ClinicalTrials.gov ID
- NCT04836377
- Acronym / sponsor ID
- AVRO-RD-02-LTF01
- Conditions
- Type 1 Gaucher Disease
- Keywords
- Gaucher, Guard1
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: This study was voluntarily terminated due to a business decision not to proceed, and not due to any safety or efficacy issue
- Enrolment
- 4 participants (actual)
- Lead sponsor
- AVROBIOIndustry (pharma, biotech, devices)
- Study start
- 6 Jul 2021 (actual)
- Primary completion
- 21 Aug 2023 (actual)
- Study completion
- 21 Aug 2023 (actual)
- First posted
- 8 Apr 2021 (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 is a multicenter, multinational long-term follow-up study to assess the long-term safety and durability of effect 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 and who meet all eligibility criteria may participate in the AVRO-RD-02-LTF01 study. For individual participating subjects, the Baseline visit for the AVRO-RD-02-LTF01 study will coincide with the subject's last visit in the preceding treatment study, whenever feasible. Subjects will be asked to return for study visits at approximately 6-month intervals for the first 4 years of the study and then annually thereafter for 10 years (for a total follow-up of 14 years in this study), during which time periodic safety and efficacy assessments will be performed to assess measures of safety, engraftment, and clinical response after AVR-RD-02 treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects with Gaucher 1 Disease | – | Other: Safety and efficacy assessmentsThis is a long-term follow-up study of subjects who previously received AVR-RD-02 (single dose administration) in a preceding treatment study. No investigational product will be administered in this study. |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- To permit longitudinal assessment of safety, efficacy and durability of effect of AVR-RD-02 gene therapy infusion in the AVRO-RD-02-LTF01 study, subjects must have received AVR-RD-02 in a preceding treatment study and agree to comply with the study visit schedule and procedures for AVRO-RD-02-LTF01 for inclusion in the Long-Term Follow-Up study.
Key inclusion criteria (2 listed)
- Subject must have been enrolled and received AVR-RD-02 as single dose administration
- Subject must be willing and able to provide written informed consent for the AVRO-RD-02-LTF01 study in accordance with applicable regulations and guidelines and to comply with all study visits and procedures.
Key exclusion criteria (1 listed)
- Subject is currently enrolled in an AVROBIO-sponsored AVR-RD-02 treatment study.
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 |
|---|---|---|
| Safety and efficacy assessmentsAlso: Gene Therapy InterventionSafety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention | Other | Subjects with Gaucher 1 Disease |
Primary outcome
Change from baseline over time in spleen volume as assessed by abdominal Magnetic Resonance Imaging (MRI)
Time frame: Baseline to Year 15 post gene therapy infusion
Baseline over time in liver volume as assessed by abdominal MRI
Time frame: Baseline to Year 15 post gene therapy infusion
Baseline over time in hemoglobin
Time frame: Baseline to Year 15 post gene therapy infusion
Change from Baseline over time in platelet count
Time frame: Baseline to Year 15 post gene therapy infusion
Change from Baseline in plasma lyso-Gb1 levels by liquid chromatography tandem mass spectrometry (LC/MS/MS)
Time frame: Baseline to Year 15 post gene therapy infusion
Incidence of newly-diagnosed malignancy, hematologic disorder, and/or immune related events/immunogenicity
Time frame: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities as assessed by vital signs
Time frame: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by physical examinations findings
Time frame: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by clinical laboratory tests
Time frame: Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by electrocardiograms (ECGs)
Time frame: Baseline to Year 15 post gene therapy infusion
9 secondary outcomes
Change from baseline over time in glucocerebrosidase (GCase) GCase enzyme activity level in
Time frame: Baseline to Year 15 post gene therapy infusion
Change from baseline over time in Enzyme Replacement Therapy (ERT) frequency and dosing
Time frame: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher biomarker indices of Gaucher disease in chitotriosidase enzyme activity levels in plasma
Time frame: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher biomarker indices of Gaucher disease in bone marrow burden (BMB) score as assessed by bone MRI
Time frame: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher biomarker indices of Gaucher disease in bone mineral density (BMD) as assessed by dual-energy X-ray absorptiometry (DXA)
Time frame: Baseline to Year 15 post gene therapy infusion
Average Vector Copy Number (VCN) in bone marrow aspirate as assessed by quantitative polymerase chain reaction (qPCR) and/or droplet digital polymerase chain reaction (ddPCR)
Time frame: Baseline to Year 15 post gene therapy infusion
Change from Baseline in anti-GCase total antibodies and subsequent titers by an electrochemiluminescence method
Time frame: Baseline to Year 15 post gene therapy infusion
Changes in Gaucher disease in potential aberrant clonal expansion(s) assessed by performing insertional site analysis (ISA)
Time frame: Baseline to Year 15 post gene therapy infusion
Presence of replication competent lentivirus (RCL)
Time frame: Baseline to Year 15 post gene therapy infusion
Results and safety
The study was stopped early (reason given: This study was voluntarily terminated due to a business decision not to proceed, and not due to any safety or efficacy issue). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Aug 2023.
- Individual participant dataSharing planned: Yes. To keep consistent with the current treatment listing
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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.
Milena Veselinovic, MD study director
AVROBIO
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Type 1 Gaucher Disease, run by AVROBIO at 3 sites in 2 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 2 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: stopped early, as of the sponsor's last update on 29 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Canada. 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 was stopped early (reason given: This study was voluntarily terminated due to a business decision not to proceed, and not due to any safety or efficacy issue). 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?
Change from baseline over time in spleen volume as assessed by abdominal Magnetic Resonance Imaging (MRI) (time frame: Baseline to Year 15 post gene therapy infusion). The study lists 10 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 29 Aug 2023.