Gene therapy for treating 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 study is testing a new gene therapy to see if it can improve symptoms and health in children with Fabry disease.

Quick facts

• Phase: Early Phase 1
• Study type: Interventional
• Enrollment: 6 (estimated)
• Ages: 7 Years to 18 Years
• Sex: All
• Sponsor: Children's Hospital of Fudan University (Academic / other)
• Locations: 1 site (Shanghai)
• Trial ID: NCT06207552 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the safety, tolerability, and efficacy of a single-dose gene therapy drug, BBM-F101, in children diagnosed with Fabry disease. It is a single-arm, open-label study that will monitor participants for up to 52 weeks post-infusion, with long-term follow-up extending to five years. The study aims to assess how well the gene therapy works in improving symptoms and overall health in pediatric patients with this rare genetic condition.

Who should consider this trial

Good fit: Ideal candidates are males and females aged 7 to 17 years with a confirmed diagnosis of Fabry disease and specific clinical manifestations.

Not a fit: Patients with positive hepatitis B surface antigen or those who do not meet the inclusion criteria may not benefit from this study.

Why it matters

Potential benefit: If successful, this gene therapy could significantly improve the quality of life and health outcomes for children suffering from Fabry disease.

How similar studies have performed: While gene therapy for Fabry disease is a relatively novel approach, similar studies have shown promising results in other genetic disorders, indicating potential for success.

Eligibility criteria

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.

Where this trial is running

Shanghai

• Children's Hospital of Fudan University — Shanghai, China (Recruiting)

Study contacts

• Principal investigator: Hong Xu, MD,PhD — Children's Hospital of Fudan University
• Study coordinator: Qian Shen, MD,PhD

Conditions Fabry Disease; Fabry