SRP-9004 for Limb-Girdle Muscular Dystrophy

(DISCOVERY Trial)

No longer 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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests the safety of a new treatment called SRP-9004, a gene therapy for limb-girdle muscular dystrophy, which weakens muscles around the hips and shoulders. The study aims to determine if SRP-9004 can be safely administered and tolerated. Participants will receive a single dose of the treatment. Those who can walk unaided but have difficulty with speed, or those who use aids, may be suitable candidates, especially if they have a specific gene mutation linked to the disease. As a Phase 1 trial, this research focuses on understanding how the treatment works in people, offering participants the chance to be among the first to receive this new therapy.

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.

Is there any evidence suggesting that this treatment is likely to be safe for humans?

Research has shown that SRP-9004 has been tested in earlier studies to assess its safety for treating limb-girdle muscular dystrophy. In these studies, some patients received SRP-9004 in various ways, including direct infusion into the limbs. The main goal was to evaluate how well patients tolerated the treatment.

So far, the data suggests that SRP-9004 is generally well-tolerated, with no major safety issues reported. However, like any new treatment under investigation, side effects can occur. This is especially important to remember since SRP-9004 remains in early trials focused on safety.

Overall, while SRP-9004 appears promising, more research is needed to fully understand its safety. Prospective participants should discuss potential risks with the study team before joining the trial. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Unlike the standard treatments for Limb-Girdle Muscular Dystrophy, which often focus on managing symptoms and improving quality of life, SRP-9004 is a gene therapy that aims to address the underlying genetic cause of the disease. Researchers are excited about SRP-9004 because it uses a viral vector to deliver a healthy copy of the affected gene directly into muscle cells, potentially providing a more long-term solution. This approach could mean fewer doses and a more sustained impact compared to traditional therapies, offering new hope for patients with this condition.

What evidence suggests that SRP-9004 might be an effective treatment for Limb-Girdle Muscular Dystrophy?

Research shows that SRP-9004, a gene therapy, is being tested for limb-girdle muscular dystrophy (LGMD) in this trial. It delivers a healthy gene to muscle cells, potentially correcting the genetic issue causing the disease. Early studies are promising, as similar gene therapies have improved muscle function in other conditions. While detailed results for SRP-9004 are still being gathered, the therapy aims to address the root cause of muscle weakness in LGMD. This new approach seeks to provide benefits where other treatments have not. ^{1 2 3 6 7}

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT01976091

Study Details | NCT01976091 | A Gene Transfer Therapy ... This is an open-label, dose escalation gene transfer therapy study evaluating the safety of SRP-9004 (patidistrogene bexoparvovec) via isolated limb infusion ( ...

2. investorrelations.sarepta.com investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-pipeline-progress-multiple-limb

Press Release - Investor Relations - Sarepta Therapeutics SRP-9004 (patidistrogene bexoparvovec) is an investigational gene therapy for limb-girdle muscular dystrophy Type 2D (LGMD2D/R3). LGMD2D/R3 ...

3. ctv.veeva.com ctv.veeva.com/study/study-to-evaluate-the-safety-tolerability-and-efficacy-of-srp-9004-administered-by-systemic-infusi

Study to Evaluate the Safety, Tolerability, and Efficacy of SRP ... Study to evaluate the safety, tolerability, and efficacy of SRP-9004 administered by systemic infusion in limb girdle muscular dystrophy type 2D/R3 ...

4. biospace.com biospace.com/drug-development/sareptas-not-done-with-gene-therapy-yet-as-lgmd-asset-yields-promising-data

Sarepta's Not Done With Gene Therapy Yet as LGMD ... Results showed that SRP-9003 hit its primary endpoint. In non-ambulatory patients, the gene therapy resulted in a 23.9% average increase in ...

5. trial.medpath.com trial.medpath.com/clinical-trial/c2781f0c98e50a6c/nct06747273-srp-9004-limb-girdle-muscular-dystrophy

Study to Evaluate the Safety, Tolerability, and Efficacy of SRP ... Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9004 Administered by Systemic Infusion in Limb Girdle Muscular Dystrophy Type 2D/R3 Participants ...

6. parentprojectmd.org parentprojectmd.org/elevidys-update/

ELEVIDYS Update Given new safety information, the FDA has notified the company that the indication should be restricted to use in ambulatory patients. This ...

7. scge.mcw.edu scge.mcw.edu/platform/data/clinicalTrials/report/NCT01976091

Gene Therapy Trial Report This is an open-label, dose escalation gene transfer therapy study evaluating the safety of SRP-9004 (patidistrogene bexoparvovec) via isolated limb infusion ( ...