Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease

A Single-arm, Open Label, Single-dose Clinical Study to Evaluate the Safety, Tolerability and Efficacy of BBM-F101 Injection in the Treatment of Pediatric Fabry Disease

This is a single-arm, open label, single-dose clinical study to evaluate the safety, tolerability and efficacy of BBM-F101 injection in the pediatric Fabry disease participants up to 52 weeks after infusion, and the long-term safety and efficacy of BBM-F101 injection up to 5 years after infusion.

BBM-F101 injection is an adeno-associated virus (AAV) gene therapy product for the treatment of pediatric Fabry disease.

Study Overview

• Status: Recruiting
• Conditions: Fabry Disease
• Intervention / Treatment: Genetic: BBM-F101 injection

• Study Type: Interventional
• Enrollment (Estimated): 6
• Phase: Early Phase 1

Contacts and Locations

• Study Contact: Name: Qian Shen, MD,PhD; Phone Number: +86 13701923307; Email: shenqian@shmu.edu.cn

Study Locations

• China
  • Shanghai, China
    • Recruiting
    • Children's Hospital of Fudan University
    • Contact: Qian Shen, MD,PhD; Phone Number: +86 13701923307; Email: shenqian@shmu.edu.cn

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

1. The participant's legal guardian fully understands the objectives, nature, methods and potential risks of the study and signs a written informed consent; If the participant is >= 8 years old, the participant must also agree to participate in the study and sign a written informed consent;
2. Decreased α-Gal A (α-galactosidase A) and confirmed diagnosis of Fabry Disease by genetic testing;
3. Males or females aged ≥7 years and <18 years old;
4. Acceptable eGFR (estimated Glomerular Filtration Rate) result in screening period;
5. Participants had at least one of the clinical manifestations for Fabry disease;
6. Acceptable capsid antibody titers;
7. Acceptable anti α-Gal A antibody titers;
8. Acceptable laboratory values;
9. Participant's legal guardian and participant with good cooperation and compliance;
10. Use of reliable contraception methods during the study for adolescence.

Exclusion Criteria:

1. Positive for hepatitis B surface antigen (HBsAg) or hepatitis B virus DNA (HBV-DNA), positive for hepatitis C virus RNA (HCV-RNA), positive for HIV or syphilis;
2. Have potential liver diseases;
3. Heart failure and severe arrhythmias;
4. Severe allergic reactions for enzyme replacement drugs or other medications;
5. Acute/chronic infections;
6. End-stage renal disease;
7. Have a vaccination history within 30 days prior to screening, or have a vaccination plan during the screening period and the main study period;
8. Have received gene therapy or used other investigational drugs within four weeks prior to dosing;
9. Other conditions that make the participant not eligible for the study according to the investigator.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Arm of BBM-F101 injection; The dose of BBM-F101 injection will be calculated according to the participant's weight with single intravenous infusion.	Genetic: BBM-F101 injection; The dose of BBM-F101 injection will be calculated according to the participant's weight with single intravenous infusion.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of dose limited toxicity	The incidence of dose limited toxicity (DLT) events as determined by the safety review committee (SRC) within DLT observation period following the BBM-F101 injection	12 weeks
Incidence of adverse events and serious adverse events	The incidence of adverse events (AE) and serious adverse events (SAE) within 52 weeks following the BBM-F101 injection	52 weeks

Collaborators and Investigators

• Sponsor: Children's Hospital of Fudan University
• Investigators: Principal Investigator: Hong Xu, MD,PhD, Children's Hospital of Fudan University

Study record dates

Study Major Dates

• Study Start (Actual): February 20, 2024
• Primary Completion (Estimated): June 1, 2025
• Study Completion (Estimated): June 1, 2029

Study Registration Dates

• First Submitted: December 18, 2023
• First Submitted That Met QC Criteria: January 4, 2024
• First Posted (Actual): January 17, 2024

Study Record Updates

• Last Update Posted (Actual): July 9, 2024
• Last Update Submitted That Met QC Criteria: July 7, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Keywords: Fabry
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Fabry Disease
• Other Study ID Numbers: BBM017-IIT1001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No