ClinicalTrials.gov record NCT06207552

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Jul 9, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhaseEarly phase 1A very early study, usually in a small number of people, to learn how the body handles a treatment. It is not designed to show whether the treatment works.
Age7 years old to 18 years old
SexAll
LocationChina
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

An early-phase, open-label study giving a single IV dose of BBM-F101, an AAV gene therapy, to children aged 7 to <18 with genetically confirmed Fabry disease and low α‑Gal A. Participants are followed for safety and tolerability for 52 weeks, with long-term safety and efficacy follow-up up to 5 years. Primary safety monitoring includes dose-limiting toxicities (first 12 weeks) and adverse events over 52 weeks.

What it is studying. The study is testing the safety, tolerability and signs of efficacy of one intravenous dose of BBM-F101 gene therapy in pediatric patients with Fabry disease.

What the researchers hope to learn. Measure incidence of dose-limiting toxicities within the first 12 weeks after infusion. Record adverse events and serious adverse events through 52 weeks. Collect longer-term safety and efficacy data up to 5 years after the single dose.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Genetic
  • BBM-F101 injection

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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;
  • Decreased α-Gal A (α-galactosidase A) and confirmed diagnosis of Fabry Disease by genetic testing;
  • Males or females aged ≥7 years and <18 years old;
  • Acceptable eGFR (estimated Glomerular Filtration Rate) result in screening period;
  • Participants had at least one of the clinical manifestations for Fabry disease;
  • Acceptable capsid antibody titers;
  • Acceptable anti α-Gal A antibody titers;
  • Acceptable laboratory values;
  • Participant's legal guardian and participant with good cooperation and compliance;
  • Use of reliable contraception methods during the study for adolescence.

Exclusion criteria

  • 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;
  • Have potential liver diseases;
  • Heart failure and severe arrhythmias;
  • Severe allergic reactions for enzyme replacement drugs or other medications;
  • Acute/chronic infections;
  • End-stage renal disease;
  • Have a vaccination history within 30 days prior to screening, or have a vaccination plan during the screening period and the main study period;
  • Have received gene therapy or used other investigational drugs within four weeks prior to dosing;
  • Other conditions that make the participant not eligible for the study according to the investigator.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants receive a single intravenous infusion of BBM-F101 with the dose calculated by weight. They will be followed closely for safety and effectiveness with visits and testing (including blood tests and clinical assessments), with a focused safety observation period in the first 12 weeks, routine follow-up through 52 weeks, and longer-term safety/efficacy follow-up up to 5 years after the infusion. Participants must avoid recent or planned vaccinations around screening and dosing and follow contraception requirements if applicable. They will be monitored for and asked to report adverse events throughout the follow-up periods.

How the study is structured. Single-arm, open-label (no placebo), non-randomized interventional study. Each participant receives one weight-based intravenous infusion of BBM-F101 and is monitored for early safety (including dose-limiting toxicities) and adverse events over 52 weeks, then followed for longer-term safety and efficacy for up to 5 years. It is an early-phase (Phase Early Phase 1) trial.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an early-phase study, mainly about safety and dose. What is already known about this treatment?
  • The listed sites are in China. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Feb 20, 2024
Primary completion
June 2025 (estimated)
Study completion
June 2029 (estimated)
Target enrollment
6 participants (estimated)
Last updated on registry
Jul 9, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Children's Hospital of Fudan University

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

single-arm
All participants receive the same treatment or follow the same plan. There is no comparison group within the study.
open label
No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
legal guardian
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
eGFR
A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
screening period
The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
investigational
A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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