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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ClinicalTrials.gov Identifier: NCT05906251

Recruitment Status : Active, not recruiting

First Posted : June 15, 2023

Last Update Posted : November 15, 2023

View this study on the modernized ClinicalTrials.gov

Sponsor:

Information provided by (Responsible Party):

Sarepta Therapeutics, Inc.

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).

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

Study Design

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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

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Limb-girdle muscular dystrophy

MedlinePlus related topics: Genes and Gene Therapy Muscular Dystrophy

Genetic and Rare Diseases Information Center resources: Muscular Dystrophy Limb-girdle Muscular Dystrophy Limb-girdle Muscular Dystrophy Type 2A Limb-girdle Muscular Dystrophy Type 2B

U.S. FDA Resources

Arms and Interventions

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

Outcome Measures

Primary Outcome Measures :

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

Secondary Outcome Measures :

Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot [ Time Frame: Baseline, Day 90 and Month 24 ]
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 ]
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 ]

Eligibility Criteria

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

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.

Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT05906251

Locations

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United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205

Sponsors and Collaborators

Sarepta Therapeutics, Inc.

Investigators

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Study Director:	Medical Director	Sarepta Therapeutics, Inc.

More Information

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Responsible Party:	Sarepta Therapeutics, Inc.
ClinicalTrials.gov 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.:


Ambulatory Gene-Delivery LGMD2B/R2 Dysferlin LGMD

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

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