Limb Girdle Muscular Dystrophy Type 2D/R3Phase 1NCT07874516
BBM-L101 Gene Therapy in Participants With LGMD2D/R3
A Phase 1 study testing BBM-L101 Injection in people with Limb Girdle Muscular Dystrophy Type 2D/R3, run by Peking University First Hospital at 1 site in China.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 4 to 13 years
- Conditions the study is for
- Limb Girdle Muscular Dystrophy Type 2D/R3
- What is being tested?
- BBM-L101 Injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteChina
- Study dates
- Oct 2026to Mar 2032
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 13 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Participant and/or legal representative understands the purpose, nature, procedures, and potential risks of the study and provides written informed consent.
- Age 4 years to <13 years at the time informed consent is signed; male or female.
- Pathogenic compound heterozygous or homozygous variants in SGCA confirmed by genetic testing.
- Absent or reduced alpha-sarcoglycan expression confirmed by muscle-biopsy pathology.
- Serum creatine kinase (CK) >1000 U/L with typical clinical signs and/or symptoms of LGMD2D/R3.
- Receiving a stable dose of systemic corticosteroid therapy for at least 3 months before screening: prednisone/prednisolone >=0.75 mg/kg/day, deflazacort >=0.9 mg/kg/day, or vamorolone oral suspension 6 mg/kg/day (weight-based adjustment allowed), with no significant change in dose/regimen anticipated during the study.
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- Able to climb 4 stairs without assistance.
- Screening anti-BBM-L101 capsid-binding antibody titer <=1:200 and neutralizing antibody titer <=1:4.
- Able to complete manual muscle testing, motor-function assessments, lower-limb MRI, and muscle biopsy as required by the protocol.
- At screening and Day -1: hemoglobin >=80 g/L; platelets >=100 x 10^9/L; GGT <=1.5 x ULN; total bilirubin <=1.5 x ULN; and serum creatinine <1.5 x ULN.
- Participant and/or legal representative is willing and able to comply with study procedures and scheduled follow-up.
Who cannot join
- Positive hepatitis B surface antigen (HBsAg), HBV DNA >=1000 U/mL, positive HCV RNA, or positive HIV test.
- Currently receiving antiviral therapy for hepatitis B, hepatitis C, or HIV infection.
- Severe behavioral or cognitive problems that, in the investigator's judgment, would preclude study participation.
- Poorly controlled asthma; clinically significant pulmonary-function decline due to LGMD2D/R3; or recurrent infectious pneumonia judged likely to affect respiratory function.
- Left ventricular ejection fraction (LVEF) <50% or New York Heart Association (NYHA) functional class III or higher.
- Severe or persistent arrhythmia (including atrial fibrillation, frequent premature ventricular contractions, ventricular bigeminy/trigeminy, or severe bundle-branch block) or congenital heart disease.
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- Change in preventive therapy or cardiomyopathy treatment within 1 month before study treatment (initiation, drug-class change, dose change, schedule change, interruption, discontinuation, or restart).
- Underlying clinically significant liver disease, including prior portal hypertension, splenomegaly, hepatic encephalopathy, liver fibrosis stage >=3, or clinically significant nodules/cysts or elevated alpha-fetoprotein at screening.
- Use of any systemic immunosuppressant within 30 days before dosing other than investigator-recommended corticosteroids and eculizumab (inhaled or topical steroids are permitted), or known hypersensitivity to corticosteroids, eculizumab, or other planned immunosuppressive agents.
- Vaccination within 30 days before dosing or planned vaccination during screening through Week 26 after infusion.
- Surgery within 3 months before dosing or planned surgery during the first 52 weeks after infusion.
- Prior participation in a gene- or cell-therapy study for LGMD2D/R3; use of another investigational drug or a newly globally approved LGMD2D/R3 therapy within 6 months before dosing; or long-term regular use of traditional Chinese medicine/herbal products for LGMD2D/R3 within 6 months before dosing.
- Current or previous autoimmune disease, severe renal or gastrointestinal disease, major psychiatric/neurologic disorder, coagulation disorder, malignancy, or other severe medical condition.
- Any other condition that, in the investigator's judgment, makes the participant unsuitable for the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
Peking University First Hospital
Beijing, Beijing Municipality, 100034
Zhiying Xie, PhD, +86 13041883880, xiezhiyingxzy@163.com
Yun Yuan, PhD
About this study
Official title: A Single-Arm, Open-Label, Single-Dose Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of BBM-L101 Injection in Participants With Limb-Girdle Muscular Dystrophy Type 2D/R3
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.
Read the detailed description
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.
- Being tested
- BBM-L101 Injection
- Keywords
- SGCA gene therapy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
BBM-L101 InjectionGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| BBM-L101 | Experimental | 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. Receives: Genetic: BBM-L101 Injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: From infusion through Week 52
Secondary outcomes (12)
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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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.
Measured: 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
Measured: Baseline through Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Oct 2026
- Study startOct 2026 (estimated)
- Primary completionNov 2027 (estimated)
- Study completionMar 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Limb Girdle Muscular Dystrophy Type 2D/R3Studies of the same condition, open and under way.
- More trials run by Peking University First HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single Group Assignment. This is a single-arm, open-label, Phase 1 dose exploration study with two sequential dose cohorts within one treatment arm. All participants receive BBM-L101. Cohort 1 receives 8.0 x10\^13 vg'kg, the Cohort 2 dose is selected by the SRC after review of Cohort 1 safety, tolerability, and preliminary efficacy data.
- Masking
- None (open label)
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking University First Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Yun Yuan, PhD, Principal investigator, Peking University First Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07874516
- Sponsor's protocol ID
- BBM-L101-IIT101
- Status last verified
- Sep 2026
- First submitted
- 8 Oct 2026
- Last updated
- 15 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Publications
Griffin DA, Pozsgai ER, Heller KN, Potter RA, Peterson EL, Rodino-Klapac LR. Preclinical Systemic Delivery of Adeno-Associated alpha-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy. Hum Gene Ther. 2021 Apr;32(7-8):390-404. doi: 10.1089/hum.2019.199. Epub 2021 Feb 18.
PubMed 33349138Mendell JR, Chicoine LG, Al-Zaidy SA, Sahenk Z, Lehman K, Lowes L, Miller N, Alfano L, Galliers B, Lewis S, Murrey D, Peterson E, Griffin DA, Church K, Cheatham S, Cheatham J, Hogan MJ, Rodino-Klapac LR. Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion. Hum Gene Ther. 2019 Jul;30(7):794-801. doi: 10.1089/hum.2019.006. Epub 2019 Apr 19.
PubMed 30838895Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.
PubMed 21031578Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craenen JM, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Viollet L, Walker CM, Sahenk Z, Clark KR. Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol. 2009 Sep;66(3):290-7. doi: 10.1002/ana.21732.
PubMed 19798725Rodino-Klapac LR, Lee JS, Mulligan RC, Clark KR, Mendell JR. Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology. 2008 Jul 22;71(4):240-7. doi: 10.1212/01.wnl.0000306309.85301.e2. Epub 2008 Jun 4.
PubMed 18525034Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther. 2007 Jan;15(1):53-61. doi: 10.1038/sj.mt.6300022.
PubMed 17164775
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single-Arm, Open-Label, Single-Dose Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of BBM-L101 Injection in Participants With Limb-Girdle Muscular Dystrophy Type 2D/R3
- ClinicalTrials.gov ID
- NCT07874516
- Acronym / sponsor ID
- BBM-L101-IIT101
- Keywords
- SGCA gene therapy
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Peking University First HospitalUniversity, hospital or other
- Study start
- Oct 2026 (estimated)
- Primary completion
- Nov 2027 (estimated)
- Study completion
- Mar 2032 (estimated)
- First posted
- 15 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single Group Assignment. This is a single-arm, open-label, Phase 1 dose exploration study with two sequential dose cohorts within one treatment arm. All participants receive BBM-L101. Cohort 1 receives 8.0 x10^13 vg'kg, the Cohort 2 dose is selected by the SRC after review of Cohort 1 safety, tolerability, and preliminary efficacy data.
| Arm | Type | Receives |
|---|---|---|
| BBM-L101 | Experimental | Genetic: BBM-L101 InjectionSingle 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. |
Who may qualify
- Ages
- 4 to 13 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (11 listed)
- Participant and/or legal representative understands the purpose, nature, procedures, and potential risks of the study and provides written informed consent.
- Age 4 years to <13 years at the time informed consent is signed; male or female.
- Pathogenic compound heterozygous or homozygous variants in SGCA confirmed by genetic testing.
- Absent or reduced alpha-sarcoglycan expression confirmed by muscle-biopsy pathology.
- Serum creatine kinase (CK) >1000 U/L with typical clinical signs and/or symptoms of LGMD2D/R3.
Key exclusion criteria (14 listed)
- Positive hepatitis B surface antigen (HBsAg), HBV DNA >=1000 U/mL, positive HCV RNA, or positive HIV test.
- Currently receiving antiviral therapy for hepatitis B, hepatitis C, or HIV infection.
- Severe behavioral or cognitive problems that, in the investigator's judgment, would preclude study participation.
- Poorly controlled asthma; clinically significant pulmonary-function decline due to LGMD2D/R3; or recurrent infectious pneumonia judged likely to affect respiratory function.
- Left ventricular ejection fraction (LVEF) <50% or New York Heart Association (NYHA) functional class III or higher.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| BBM-L101 InjectionInvestigational 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. | Genetic | BBM-L101 |
Primary outcome
Incidence of Dose-Limiting Toxicities (DLTs)
Time frame: From infusion through Week 12
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.
Incidence of Adverse Events (AEs) and Serious Adverse Events (SAEs)
Time frame: From infusion through Week 52
Proportion of participants with AEs and SAEs after BBM-L101 infusion. Events will be summarized by severity, seriousness, and relationship to BBM-L101.
12 secondary outcomes
Change From Baseline in Liver Chemistry Parameters
Time frame: Baseline through Week 52
Change From Baseline in Muscle Sarcoglycan and Dystrophin Expression
Time frame: Baseline, Weeks 12 and 52
Change From Baseline in Serum Creatine Kinase (CK)
Time frame: Baseline; Weeks 12, 26, 52
Change From Baseline in NSAD Total Score
Time frame: Baseline; Weeks 12, 26, 52
Change From Baseline in 6-Minute Walk Test (6MWT) Distance
Time frame: Baseline; Weeks 12, 26, 52
Change From Baseline in Manual Muscle Testing (MMT)
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 frame: Baseline; Weeks 12, 26, and 52
Change From Baseline in Lower-Limb Muscle MRI
Time frame: Baseline; Weeks 26 and 52
Change From Baseline in Muscle BBM-L101 Vector Genome Levels
Time frame: Baseline; Weeks 12 and 52
rAAV Vector Shedding
Time frame: From infusion through Week 52
rAAV Capsid-Binding and Neutralizing Antibody Titers
Time frame: Baseline through Week 52
Cellular Immune Responses to rAAV Capsid and Alpha-Sarcoglycan
Time frame: Baseline through Week 52
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- Background: PubMed 33349138Griffin DA, Pozsgai ER, Heller KN, Potter RA, Peterson EL, Rodino-Klapac LR. Preclinical Systemic Delivery of Adeno-Associated alpha-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy. Hum Gene Ther. 2021 Apr;32(7-8):390-404. doi: 10.1089/hum.2019.199. Epub 2021 Feb 18.
- Background: PubMed 30838895Mendell JR, Chicoine LG, Al-Zaidy SA, Sahenk Z, Lehman K, Lowes L, Miller N, Alfano L, Galliers B, Lewis S, Murrey D, Peterson E, Griffin DA, Church K, Cheatham S, Cheatham J, Hogan MJ, Rodino-Klapac LR. Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion. Hum Gene Ther. 2019 Jul;30(7):794-801. doi: 10.1089/hum.2019.006. Epub 2019 Apr 19.
- Background: PubMed 21031578Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.
- Background: PubMed 19798725Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craenen JM, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Viollet L, Walker CM, Sahenk Z, Clark KR. Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol. 2009 Sep;66(3):290-7. doi: 10.1002/ana.21732.
- Background: PubMed 18525034Rodino-Klapac LR, Lee JS, Mulligan RC, Clark KR, Mendell JR. Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology. 2008 Jul 22;71(4):240-7. doi: 10.1212/01.wnl.0000306309.85301.e2. Epub 2008 Jun 4.
- Background: PubMed 17164775Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther. 2007 Jan;15(1):53-61. doi: 10.1038/sj.mt.6300022.
- Individual participant dataSharing planned: 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Yun Yuan, PhD principal investigator
Peking University First Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing BBM-L101 Injection in people with Limb Girdle Muscular Dystrophy Type 2D/R3, run by Peking University First Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Zhiying Xie, PhD (+86 13041883880, xiezhiyingxzy@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Dose-Limiting Toxicities (DLTs) (time frame: From infusion through Week 12). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07874516, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2026; AzTrials last refreshed its copy on 7 Nov 2026.