Back to resultsA 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)
Primary Purpose
Limb Girdle Muscular Dystrophy
Status
Enrolling by invitation
Phase
Phase 1
Locations
United States
Study Type
Interventional
Intervention
SRP-6004
Sponsored by
About this trial
This is an interventional treatment trial for Limb Girdle Muscular Dystrophy focused on measuring Ambulatory, Gene-Delivery, LGMD2B/R2, Dysferlin, LGMD
Eligibility Criteria
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 exclusion criteria could apply.
Sites / Locations
- Nationwide Children's Hospital
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
SRP-6004
Arm Description
Participants will receive single IV infusion of SRP-6004 on Day 1.
Outcomes
Primary Outcome Measures
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Secondary Outcome Measures
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity
Change from Baseline in Percent of Normal DYSF Protein Expression as Assessed by IF Percent DYSF Positive Fibers (PPF: DYSF)
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT05906251
Brief Title
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)
Official Title
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)
Study Type
Interventional
2. Study Status
Record Verification Date
May 2023
Overall Recruitment Status
Enrolling by invitation
Study Start Date
May 22, 2023 (Actual)
Primary Completion Date
August 31, 2028 (Anticipated)
Study Completion Date
August 31, 2028 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Sarepta Therapeutics, Inc.
4. Oversight
Studies a U.S. FDA-regulated Drug Product
Yes
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes
5. Study Description
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).
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Limb Girdle Muscular Dystrophy
Keywords
Ambulatory, Gene-Delivery, LGMD2B/R2, Dysferlin, LGMD
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 1
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
2 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
SRP-6004
Arm Type
Experimental
Arm Description
Participants will receive single IV infusion of SRP-6004 on Day 1.
Intervention Type
Genetic
Intervention Name(s)
SRP-6004
Other Intervention Name(s)
rAAVrh74.MHCK7.DYSF.DV
Intervention Description
Single IV infusion of SRP-6004
Primary Outcome Measure Information:
Title
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Time Frame
Baseline up to Month 60
Secondary Outcome Measure Information:
Title
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot
Time Frame
Baseline, Day 90 and Month 24
Title
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity
Time Frame
Baseline, Day 90 and Month 24
Title
Change from Baseline in Percent of Normal DYSF Protein Expression as Assessed by IF Percent DYSF Positive Fibers (PPF: DYSF)
Time Frame
Baseline, Day 90 and Month 24
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
50 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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 exclusion criteria could apply.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Medical Director
Organizational Affiliation
Sarepta Therapeutics, Inc.
Official's Role
Study Director
Facility Information:
Facility Name
Nationwide Children's Hospital
City
Columbus
State/Province
Ohio
ZIP/Postal Code
43205
Country
United States
12. IPD Sharing Statement
Learn more about this trial
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)
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