A Phase 1 interventional study of BBM-L101 Injection in Limb Girdle Muscular Dystrophy Type 2D/R3, sponsored by Peking University First Hospital. Not yet recruiting at 1 site in China. Open to participants aged 4 Years to 13 Years. Per ClinicalTrials.gov, last updated 2026-10-15.
Sponsored by Peking University First Hospital · Phase 1, Interventional, and Treatment
This phase 1 study will evaluate a single intravenous infusion of BBM-L101, an investigational AAV-based gene therapy designed to deliver a functional SGCA gene, in ambulatory children aged 4 to \<13 years with genetically confirmed SGCA-related limb-girdle muscular dystrophy (LGMD2D/R3). The primary objective is to assess safety and tolerability. The study will also explore muscle protein expression, serum creatine kinase, motor function, biodistribution/vector shedding, and immune responses. Participants will be followed for 52 weeks in the main study and through 5 years after infusion for long-term safety and efficacy.
This is a single-center, open-label, sequential dose-exploration study enrolling 6-8 participants. Dose Cohort 1 will receive BBM-L101 at 8.0 x 10\^13 vg/kg as a single intravenous infusion. The dose for Cohort 2 will be selected by the Safety Review Committee (SRC) after review of Cohort 1 safety, tolerability, and preliminary efficacy. Each dose cohort initially includes 3 DLT-evaluable participants; cohort expansion, escalation, de-escalation, or stopping may occur according to protocol-defined rules. The DLT observation window is 12 weeks. Main-study assessments through Week 52 include adverse events, liver laboratory tests, muscle biopsy biomarkers, serum CK, motor-function tests, lower-limb MRI, vector genome/shedding assessments, and immunogenicity.
Participants completing Week 52 enter long-term follow-up through 5 years after infusion.
Peking University First Hospital is the lead sponsor of 386 studies on the registry; 182 are open to participants now.
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Exclusion Criteria:
Single IV infusion of BBM-L101. Cohort 1: 8.0x 10\^13 vg/kg. Cohort 2: dose selected by the SRC after review of Cohort 1 safety, tolerability, and preliminary efficacy data.
Genetic: BBM-L101 Injection
Investigational recombinant adeno-associated virus gene therapy comprising the engineered N500 capsid carrying the shCK.SGCA-GLOB.hpolyA expression cassette. Administered once by intravenous infusion under medical monitoring. Cohort 1: 8.0 x 10\^13 vg/kg. Cohort 2: dose selected by the SRC according to protocol-defined dose-exploration rules.
Incidence of Dose-Limiting Toxicities (DLTs)
Proportion of DLT-evaluable participants with at least 1 protocol-defined DLT judged related to BBM-L101 and adjudicated by the SRC. Adverse-event severity is graded using NCI CTCAE v5.0.
Time frame: From infusion through Week 12
Incidence of Adverse Events (AEs) and Serious Adverse Events (SAEs)
Proportion of participants with AEs and SAEs after BBM-L101 infusion. Events will be summarized by severity, seriousness, and relationship to BBM-L101.
Time frame: From infusion through Week 52
Change From Baseline in Liver Chemistry Parameters
Changes from baseline in gamma-glutamyl transferase (GGT), total bilirubin, alanine aminotransferase (ALT), and aspartate aminotransferase (AST) will be summarized
Time frame: Baseline through Week 52
Change From Baseline in Muscle Sarcoglycan and Dystrophin Expression
Expression of sarcoglycans and dystrophin in muscle biopsy specimens will be assessed by immunofluorescence/immunohistochemistry and Western blot and summarized as change from baseline.
Time frame: Baseline, Weeks 12 and 52
Change From Baseline in Serum Creatine Kinase (CK)
Serum Creatine Kinase (U/L) will be measured at protocol-specified visits; absolute values and change from baseline will be summarized.
Time frame: Baseline; Weeks 12, 26, 52
Change From Baseline in NSAD Total Score
The North Star Asessment for Limb-Girdle Type Muscular Dystrophies (NSAD) is a 29-item clinician-rated motor-function assessment with a total score range of 0-54; higher scores indicate better motor function. Change from baseline will be summarized.
Time frame: Baseline; Weeks 12, 26, 52
Change From Baseline in 6-Minute Walk Test (6MWT) Distance
Distance walked in 6 minutes (meters) will be measured using a standardized 6MWT; change from baseline will be summarized.
Time frame: Baseline; Weeks 12, 26, 52
Change From Baseline in Manual Muscle Testing (MMT)
Manual muscle strength will be assessed using protocol-specified MMT and change from baseline summarized
Time frame: Baseline; Weeks 12, 26, and 52
Change From Baseline in 10-Meter Walk/Run (10MWR) Time, 4-Stair Climb (4SC) Time, and Rise From the Floor (TTR) Time
Time required to walk or run 10 meters without assistance, rise from the floor, ascend 4 stairs will be recorded in seconds; change from baseline will be summarized.
Time frame: Baseline; Weeks 12, 26, and 52
Change From Baseline in Lower-Limb Muscle MRI
Protocol-specified lower-limb muscle MRI measures will be compared with baseline to characterize imaging changes after treatment.
Time frame: Baseline; Weeks 26 and 52
Change From Baseline in Muscle BBM-L101 Vector Genome Levels
BBM-L101 vector genome levels in muscle biopsy specimens will be measured and summarized relative to baseline.
Time frame: Baseline; Weeks 12 and 52
rAAV Vector Shedding
Vector shedding will be assessed in plasma, peripheral blood mononuclear cells (PBMCs), and urine at protocol-specified time points
Time frame: From infusion through Week 52
rAAV Capsid-Binding and Neutralizing Antibody Titers
Humoral immune responses to the rAAV capsid will be assessed by capsid-binding antibody and neutralizing antibody titers.
Time frame: Baseline through Week 52
Cellular Immune Responses to rAAV Capsid and Alpha-Sarcoglycan
Protocol-specified cellular immune responses to the rAAV capsid and alpha-sarcoglycan will be assessed in peripheral blood samples
Time frame: Baseline through Week 52
Long-Term Safety
Treatment-related adverse events and serious adverse events will be collected during long-term follow-up
Time frame: Week 52 through Year 5 after infusion
Long-Term Motor/Muscle Function
Protocol-specified motor and muscle-function assessments will be repeated during long-term follow-up to characterize durability of clinical response
Time frame: Week 52 through Year 5 after infusion
Plan to share: Yes — De-identified individual participant data (IPD) underlying results reported in peer-reviewed publications will be made available to qualified researchers for scientifically valid purposes, subject to participant consent, applicable laws and regulations, institutional review, and execution of an appropriate data-use agreement.
Supporting information: Study protocol, Statistical analysis plan
Time frame: Beginning after publication of the primary study results; no planned end date.
Access criteria: Requests from qualified researchers must include a methodologically sound research proposal. Requests will be reviewed by the Sponsor/Principal Investigator. Approved requesters must sign a data-use agreement; shared data will be de-identified.
Start is estimated for Oct 2026; primary completion for Nov 2027, 13 months later.
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From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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