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Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201

Terminated
Conditions
Fabry Disease
Registration Number
NCT04999059
Lead Sponsor
AVROBIO
Brief 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. 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.

Recruitment & Eligibility

Status
TERMINATED
Sex
Male
Target Recruitment
5
Inclusion Criteria
  1. Subject must have been enrolled and received AVR-RD-01 in the AVRO-RD-01-201 study.
Exclusion Criteria
  1. 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.
  2. Subject is currently enrolled in an AVROBIO-sponsored AVR-RD-01 treatment study.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Presence of anti-Alpha-galactosidase A (AGA) antibodiesBaseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by clinical laboratory testsBaseline to Year 15 post gene therapy infusion
Evaluate for the presence of aberrant clonal expansion as assessed by integration site analysis (ISA)Baseline to Year 15 post gene therapy infusion
Incidence of clinically significant AEs and SAEsBaseline to Year 15 post gene therapy infusion
Presence of replication competent lentivirus (RCL)Baseline to Year 15 post gene therapy infusion
Number of participants with clinically relevant abnormalities, as assessed by vital signsBaseline to Year 15 post gene therapy infusion
Secondary Outcome Measures
NameTimeMethod
Change from baseline in eGFRBaseline to Year 15 post gene therapy infusion
Change from baseline in AGA enzyme activity level and peripheral blood leukocytes (PBLs)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)Baseline to Year 15 post gene therapy infusion
Change from baseline in Globotriaosylceramide (Gb3) biomarkers for Fabry disease in plasma and urineBaseline 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)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)Baseline to Year 15 post gene therapy infusion
Change from baseline in Brief Pain Inventory-Short Form (BPI-SF) questionnaire scoresBaseline 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) scoresBaseline 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)Baseline to Year 15 post gene therapy infusion

Trial Locations

Locations (3)

Royal Melbourne Hospital

🇦🇺

Melbourne, Parkville VIC, Australia

Royal Perth Hospital

🇦🇺

Perth, Australia

Hospital de Clinicas de Porto Alegre

🇧🇷

Porto Alegre, Rio Grande Do Sul, Brazil

Royal Melbourne Hospital
🇦🇺Melbourne, Parkville VIC, Australia

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