A Gene Transfer Study to Evaluate the Safety, Tolerability and Efficacy of SRP-6004 in Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2B/R2 (LGMD2B/R2, Dysferlin [DYSF] Related)

An Open-Label, Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP 6004 Administered by Systemic Infusion in Ambulatory Subjects With Limb Girdle Muscular Dystrophy Type 2B/R2 (LGMD2B/R2, Dysferlin Related)

Status

Terminated

Phases

Phase 1

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05906251

Enrollment

Registered

2023-06-15

Start date

2023-05-22

Completion date

2025-06-13

Last updated

2025-09-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Limb Girdle Muscular Dystrophy

Keywords

Ambulatory, Gene-Delivery, LGMD2B/R2, Dysferlin, LGMD

Brief summary

The primary purpose of this study is to evaluate the safety of SRP-6004 administered by intravenous (IV) infusion in ambulatory participants with LGMD2B/R2 (DYSF related).

Interventions

GENETICSRP-6004

Single IV infusion of SRP-6004

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Years to 50 Years

Healthy volunteers

Inclusion criteria

* Possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic DYSF Deoxyribonucleic acid (DNA) gene mutations as documented prior to screening visits. * Participants must be ambulatory per protocol specified criteria. * Ability to cooperate with motor assessment testing. * Has accessible and intact lower and upper extremity musculature for biopsy. * Have adeno-associated virus rhesus serotype 74 (rAAVrh74) antibody titers \< 1:400 (that is, not elevated) as determined by enzyme-linked immunosorbent assay (ELISA).

Exclusion criteria

* Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. * Presence of any other clinically significant illness, medical condition, or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risk for gene transfer. Note: Other inclusion or

Design outcomes

Primary

Measure	Time frame
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)	Baseline up to Month 60

Secondary

Measure	Time frame
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot	Baseline, Day 90 and Month 15
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity	Baseline, Day 90 and Month 15
Change from Baseline in Percent of Normal DYSF Protein Expression as Assessed by IF Percent DYSF Positive Fibers (PPF: DYSF)	Baseline, Day 90 and Month 15

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026