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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)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT05906251
Recruitment Status : Active, not recruiting
First Posted : June 15, 2023
Last Update Posted : November 15, 2023
Information provided by (Responsible Party):
Sarepta Therapeutics, Inc.

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).

Condition or disease Intervention/treatment Phase
Limb Girdle Muscular Dystrophy Genetic: SRP-6004 Phase 1

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 2 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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)
Actual Study Start Date : May 22, 2023
Estimated Primary Completion Date : August 31, 2028
Estimated Study Completion Date : August 31, 2028

Arm Intervention/treatment
Experimental: SRP-6004
Participants will receive single IV infusion of SRP-6004 on Day 1.
Genetic: SRP-6004
Single IV infusion of SRP-6004
Other Name: rAAVrh74.MHCK7.DYSF.DV

Primary Outcome Measures :
  1. Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs) [ Time Frame: Baseline up to Month 60 ]

Secondary Outcome Measures :
  1. Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot [ Time Frame: Baseline, Day 90 and Month 24 ]
  2. 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 ]
  3. 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 ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT05906251

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United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Sarepta Therapeutics, Inc.
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Study Director: Medical Director Sarepta Therapeutics, Inc.
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Responsible Party: Sarepta Therapeutics, Inc. Identifier: NCT05906251    
Other Study ID Numbers: SRP-6004-102
First Posted: June 15, 2023    Key Record Dates
Last Update Posted: November 15, 2023
Last Verified: November 2023

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Sarepta Therapeutics, Inc.:
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn