Fabry DiseaseNCT04999059
Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201
An observational study of Fabry Disease, run by AVROBIO at 3 sites in 2 countries.
Trial summary
This is a multinational, long-term follow-up study to assess the long-term safety and durability of AVR-RD-01 treatment in participants who received a single dose administration of lentiviral gene therapy in Study AVRO-RD-01-201 (treatment study). No investigational product will be administered in this study. Read more about this study
- Who is it for?
- Ages 16 to 50 years, men only
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Safety and Efficacy Assessments
- How many people
- 5 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 8 May 2019to 16 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 16 to 50 years
- Men only
- No healthy volunteers
- Child, Adult
Study population: Subjects who received AVR-RD-01 in the preceding treatment study, meet all eligibility criteria, and agree to comply with the study visit schedule and procedures.
Who may be able to join
- 1. Subject must have been enrolled and received AVR-RD-01 in the AVRO-RD-01-201 study.
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.
- Subject is currently enrolled in an AVROBIO-sponsored AVR-RD-01 treatment study.
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
Australia2 sites
Royal Melbourne Hospital
Melbourne, Parkville VIC
Royal Perth Hospital
Perth
Brazil1 site
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, 90420-020
About this study
Official title: A Long-Term Follow-Up Study of Subjects With Fabry Disease Who Previously Received Ex-Vivo, Lentiviral Vector-Mediated Gene-Modified Autologous Cell Therapy AVR-RD-01 in Study AVRO-RD-01-201
This is a multinational, long-term follow-up study to assess the long-term safety and durability of AVR-RD-01 treatment in participants who received a single dose administration of lentiviral gene therapy in Study AVRO-RD-01-201 (treatment study). No investigational product will be administered in this study. Participants will continue periodic safety and efficacy assessments in this long-term follow-up study up to 15 years from AVR-RD-01 gene therapy infusion.
Read the detailed description
Participants enrolled in the AVRO-RD-01-201 study will be offered participation in the AVRO-RD-01-LTF01 study. The Baseline visit for the AVRO-RD-01-LTF01 study will coincide with the participant's last visit in the AVRO-RD-01-201 study. Participants confirmed eligible for the AVRO-RD-01-LTF01 study will be asked to return for study visits at approximately 6-month intervals for the first 4 years and annually thereafter for 10 years (for a total of 15 years from AVR-RD-01 infusion) during which time continued safety, engraftment, and efficacy of treatment will be assessed.
- Conditions
- Fabry Disease
- Being tested
- Safety and Efficacy Assessments
- Keywords
- Fabry Disease, Cell therapy, Gene therapy, Long-term follow-up, Lysosomal storage disorder, Lenti-viral
- Medical subject headings
- Fabry Disease, Lysosomal Storage Diseases
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 |
|---|---|---|
| Participants with Fabry Disease | This is a long-term follow-up study of participants who previously received AVR-RD-01 (single dose administration) in the AVRO-RD-01-201 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.
Incidence of clinically significant AEs and SAEs
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 vital signs
Measured: Baseline to Year 15 post gene therapy infusion
Presence of anti-Alpha-galactosidase A (AGA) antibodies
Measured: Baseline to Year 15 post gene therapy infusion
Presence of replication competent lentivirus (RCL)
Measured: Baseline to Year 15 post gene therapy infusion
Evaluate for the presence of aberrant clonal expansion as assessed by integration site analysis (ISA)
Measured: Baseline to Year 15 post gene therapy infusion
Secondary outcomes (9)
Change from baseline in AGA enzyme activity level and peripheral blood leukocytes (PBLs)
Measured: Baseline to Year 15 post gene therapy infusion
Average Vector Copy Number (VCN) in peripheral blood leukocytes 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 Globotriaosylceramide (Gb3) biomarkers for Fabry disease in plasma and urine
Measured: Baseline to Year 15 post gene therapy infusion
Average Vector Copy Number (VCN) in bone marrow / progenitor cells 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 eGFR
Measured: Baseline to Year 15 post gene therapy infusion
Change from baseline in left ventricular mass index (LVMI) as assessed by cardiac magnetic resonance imaging (MRI)
Measured: Baseline to Year 15 post gene therapy infusion
Change from baseline in abdominal pain and stool consistency as assessed by the Diary for Irritable Bowel Syndrome Symptoms-Diarrhea (DIBSS-D)
Measured: Baseline to Year 15 post gene therapy infusion
Change from baseline in Brief Pain Inventory-Short Form (BPI-SF) questionnaire scores
Measured: Baseline to Year 15 post gene therapy infusion
Change from baseline in physical and mental functioning as assessed by the Short Form 36 (SF-36) Physical Component Summary (PCS) and Mental Component Summary (MCS) scores
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 posted10 Aug 2021
- Study start8 May 2019
- Primary completion16 Aug 2023
- Study completion16 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 Fabry 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
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- AVROBIO
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Inderpal Panesar, MRPharmS, Study director, AVROBIO, Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04999059
- Sponsor's protocol ID
- AVRO-RD-01-LTF01
- Status last verified
- Oct 2022
- First submitted
- 4 Aug 2021
- Last updated
- 31 Aug 2023
- 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 31 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 Fabry Disease Who Previously Received Ex-Vivo, Lentiviral Vector-Mediated Gene-Modified Autologous Cell Therapy AVR-RD-01 in Study AVRO-RD-01-201
- ClinicalTrials.gov ID
- NCT04999059
- Acronym / sponsor ID
- AVRO-RD-01-LTF01
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, Cell therapy, Gene therapy, Long-term follow-up, Lysosomal storage disorder, Lenti-viral
- 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
- 5 participants (actual)
- Lead sponsor
- AVROBIOIndustry (pharma, biotech, devices)
- Study start
- 8 May 2019 (actual)
- Primary completion
- 16 Aug 2023 (actual)
- Study completion
- 16 Aug 2023 (actual)
- First posted
- 10 Aug 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 multinational, long-term follow-up study to assess the long-term safety and durability of AVR-RD-01 treatment in participants who received a single dose administration of lentiviral gene therapy in Study AVRO-RD-01-201 (treatment study). No investigational product will be administered in this study. Participants will continue periodic safety and efficacy assessments in this long-term follow-up study up to 15 years from AVR-RD-01 gene therapy infusion.
Detailed description
Participants enrolled in the AVRO-RD-01-201 study will be offered participation in the AVRO-RD-01-LTF01 study. The Baseline visit for the AVRO-RD-01-LTF01 study will coincide with the participant's last visit in the AVRO-RD-01-201 study. Participants confirmed eligible for the AVRO-RD-01-LTF01 study will be asked to return for study visits at approximately 6-month intervals for the first 4 years and annually thereafter for 10 years (for a total of 15 years from AVR-RD-01 infusion) during which time continued safety, engraftment, and efficacy of treatment will be assessed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Fabry Disease | – | Other: Safety and Efficacy AssessmentsThis is a long-term follow-up study of participants who previously received AVR-RD-01 (single dose administration) in the AVRO-RD-01-201 treatment study. No investigational product will be administered in this study. |
Who may qualify
- Ages
- 16 to 50 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Subjects who received AVR-RD-01 in the preceding treatment study, meet all eligibility criteria, and agree to comply with the study visit schedule and procedures.
Key inclusion criteria (1 listed)
- 1. Subject must have been enrolled and received AVR-RD-01 in the AVRO-RD-01-201 study.
Key exclusion criteria (5 listed)
- Subject has any medical, psychological, or other condition that, in the opinion of the Investigator:
- Subject is currently enrolled in an AVROBIO-sponsored AVR-RD-01 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 | Participants with Fabry Disease |
Primary outcome
Incidence of clinically significant AEs and SAEs
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 vital signs
Time frame: Baseline to Year 15 post gene therapy infusion
Presence of anti-Alpha-galactosidase A (AGA) antibodies
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
Evaluate for the presence of aberrant clonal expansion as assessed by integration site analysis (ISA)
Time frame: Baseline to Year 15 post gene therapy infusion
9 secondary outcomes
Change from baseline in AGA enzyme activity level and peripheral blood leukocytes (PBLs)
Time frame: Baseline to Year 15 post gene therapy infusion
Average Vector Copy Number (VCN) in peripheral blood leukocytes 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 Globotriaosylceramide (Gb3) biomarkers for Fabry disease in plasma and urine
Time frame: Baseline to Year 15 post gene therapy infusion
Average Vector Copy Number (VCN) in bone marrow / progenitor cells 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 eGFR
Time frame: Baseline to Year 15 post gene therapy infusion
Change from baseline in left ventricular mass index (LVMI) as assessed by cardiac magnetic resonance imaging (MRI)
Time frame: Baseline to Year 15 post gene therapy infusion
Change from baseline in abdominal pain and stool consistency as assessed by the Diary for Irritable Bowel Syndrome Symptoms-Diarrhea (DIBSS-D)
Time frame: Baseline to Year 15 post gene therapy infusion
Change from baseline in Brief Pain Inventory-Short Form (BPI-SF) questionnaire scores
Time frame: Baseline to Year 15 post gene therapy infusion
Change from baseline in physical and mental functioning as assessed by the Short Form 36 (SF-36) Physical Component Summary (PCS) and Mental Component Summary (MCS) scores
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 31 Aug 2023.
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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.
Inderpal Panesar, MRPharmS study director
AVROBIO, Inc
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 Fabry 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 1 inclusion and 5 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 31 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 Australia, Brazil. 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?
Incidence of clinically significant AEs and SAEs (time frame: Baseline to Year 15 post gene therapy infusion). The study lists 6 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 31 Aug 2023; AzTrials last refreshed its copy on 7 Nov 2026.