Long Term Follow-Up for Safety of AVR-RD-02

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).

Study Overview

• Status: Active, not recruiting
• Conditions: Gaucher Disease
• Intervention / Treatment: Biological: AVR-RD-02

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 Type: Observational
• Enrollment (Actual): 2

Contacts and Locations

Study Locations

• United States
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa Hospitals and Clinics

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Subjects with Gaucher disease who previously received the investigational gene therapy product AVR-RD-02

Description

Inclusion Criteria

Subjects must meet all of the following inclusion criteria for participation in this study:

1. 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.
2. Subject must have been enrolled in the preceding AVROBIO AVRO-RD-02-201 treatment study and have received AVR-RD-02 treatment

Exclusion Criteria

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Subjects who received AVR-RD-02; Subjects who received AVR-RD-02 in a separate parent trial	Biological: AVR-RD-02; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Incidence of newly diagnosed malignancy, hematologic disorder, and/or autoimmune or rheumatologic disorder	Baseline to Year 14
Change from baseline over time in hemoglobin concentration	Baseline to Year 14
Change from baseline over time in platelet count	Baseline to Year 14

Secondary Outcome Measures

Outcome Measure	Time Frame
Change from baseline over time in glucocerebrosidase (GCase) enzyme activity in whole blood	Baseline to Year 14
Average vector copy number (VCN) from whole blood using quantitative polymerase chain reaction (qPCR) analysis	Baseline to Year 14
Change from baseline over time in anti-GCase total antibodies and subsequent titers	Baseline to Year 14
Identification of potential aberrant clonal expansion(s) assessed by performing insertional site analysis (ISA) from whole blood	Baseline to Year 14
Presence of replication competent lentivirus (RCL)	Baseline to Year 14

Collaborators and Investigators

• Sponsor: John Bernat
• Investigators: Principal Investigator: John A. Bernat, MD, PhD, University of Iowa

Study record dates

Study Major Dates

• Study Start (Actual): February 21, 2024
• Primary Completion (Estimated): June 1, 2037
• Study Completion (Estimated): October 1, 2037

Study Registration Dates

• First Submitted: November 20, 2023
• First Submitted That Met QC Criteria: June 27, 2024
• First Posted (Actual): July 5, 2024

Study Record Updates

• Last Update Posted (Actual): July 22, 2025
• Last Update Submitted That Met QC Criteria: July 17, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Gaucher Disease
• Other Study ID Numbers: 202309221

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No