SRP-9004 for Limb-Girdle Muscular Dystrophy

(DISCOVERY Trial)

Recruiting at 1 trial location

Overseen By Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4

Age: Any Age

Sex: Any

Trial Phase: Phase 1

Sponsor: Sarepta Therapeutics, Inc.

Disqualifiers: Cardiomyopathy, Neuromuscular illness, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

Duration: 1 day

4 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. Please consult with the trial coordinators for more details.

How is the drug SRP-9004 different from other treatments for limb-girdle muscular dystrophy?

Currently, there are no known treatments for limb-girdle muscular dystrophy, making SRP-9004 potentially unique as it may offer a novel approach to addressing this condition. ^{1 2 3 4 5}

What is the purpose of this trial?

The primary objective of this study is to evaluate the safety of SRP-9004.

Eligibility Criteria

This trial is for individuals aged 4 to 20 with Limb Girdle Muscular Dystrophy Type 2D/R3 who weigh less than 70 kg and have specific genetic mutations. Participants must be able to perform muscle testing, with ambulatory participants being able to walk unaided and non-ambulatory ones having a certain level of upper limb function.

Inclusion Criteria

Participants must be able to cooperate with muscle testing

I weigh 70 kg or less.

Ambulatory participants must be able to walk without assistive aid, have a 10MWR time of less than 30 seconds, and NSAD total score of at least 25. Non-ambulatory participants must have a 10MWR time of 30 seconds or more or be unable to perform, and a PUL 2.0 entry scale score of at least 3

Exclusion Criteria

Any other clinically significant illness, including neuromuscular (other than limb girdle muscular dystrophy type 2D/R3 [LGMD2D/R3]), that in the opinion of the Investigator might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability

My lung function is very low or I need help breathing at night.

My heart's pumping ability is weak.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive a single dose of SRP-9004 administered by systemic infusion

1 day

1 visit (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment

12 weeks

Treatment Details

Interventions

• SRP-9004

Trial Overview The study is focused on the safety and tolerability of SRP-9004, which is administered through systemic infusion. The main goal is to see how well patients with LGMD2D/R3 handle this treatment over time.

Participant Groups

Group I: SRP-9004 Experimental Treatment 1 Intervention

Participants will receive a single dose of SRP-9004 on Day 1.

Who Is Running the Clinical Trial?

Sarepta Therapeutics, Inc.

Lead Sponsor

Trials

54

Recruited

34,000+

Findings from Research

This study identified a new genetic locus for limb-girdle muscular dystrophy (LGMD) on chromosome 2p, specifically linked to markers D2S134 and D2S136, after excluding other known loci.

The affected individuals from two large inbred families exhibited similar symptoms, with muscle weakness starting in the pelvic girdle during late adolescence and a generally slow progression of the disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Bashir, R., Strachan, T., Keers, S., et al.[2022]

References

1. Belgium pubmed.ncbi.nlm.nih.gov

[Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy]. [2018]

2. England pubmed.ncbi.nlm.nih.gov

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. [2022]

3. England pubmed.ncbi.nlm.nih.gov

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. [2022]

4. Italy pubmed.ncbi.nlm.nih.gov

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient. [2021]

5. England pubmed.ncbi.nlm.nih.gov

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. [2019]