What side effects are associated with this type of intervention?

Common treatments for Limb-Girdle Muscular Dystrophy, particularly those targeting dysferlin deficiency like SRP-6004, often involve gene therapy and corticosteroids. Gene therapy aims to introduce functional copies of the dysferlin gene, and potential side effects can include immune reactions, infections, and infusion-related reactions. Corticosteroids, used to manage inflammation and slow disease progression, can cause side effects such as weight gain, osteoporosis, hypertension, and increased susceptibility to infections. It is important for patients to discuss these potential side effects with their healthcare provider to manage and mitigate risks effectively.

What prior FDA approvals exist?

Currently, there are no FDA-approved treatments specifically targeting dysferlin deficiency in Limb-Girdle Muscular Dystrophy type 2B/R2 (LGMD2B/R2). However, gene therapy approaches, such as the investigational drug SRP-6004, are being studied for their potential to address this deficiency. Broader treatments for LGMD have included the use of corticosteroids like deflazacort, which has shown benefits in some subtypes of LGMD by improving muscle strength and function. Other investigational therapies are exploring the use of antisense oligonucleotides and gene transfer techniques to address specific genetic mutations associated with various forms of LGMD.

What other types of research exist?

Promising alternatives to SRP-6004 for LGMD2B/R2 include: 1) Antisense oligonucleotide therapies, which have shown potential in other muscular dystrophies by targeting specific genetic mutations. 2) Gene editing technologies like CRISPR/Cas9, which can potentially correct the underlying genetic defects. 3) Stem cell therapies, including mesenchymal stromal cells (MSC-NTF cells), which have shown safety and some efficacy in early trials for other neuromuscular diseases. 4) Small molecule drugs that enhance muscle function or reduce inflammation, such as those targeting the dystrophin-associated protein complex. These alternatives are in various stages of research and development and may offer new hope for LGMD2B/R2 patients.

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Gene Therapy

Gene Transfer with SRP-6004 for Limb-Girdle Muscular Dystrophy

Phase 1

Waitlist Available

Research Sponsored by Sarepta Therapeutics, Inc.

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic DYSF Deoxyribonucleic acid (DNA) gene mutations as documented prior to screening visits.

Has accessible and intact lower and upper extremity musculature for biopsy.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 5 years

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing the safety of a medicine called SRP-6004, given through a vein, in people who can walk but have a specific type of muscular dystrophy (LGMD2B/R2).

Who is the study for?

This trial is for ambulatory individuals with Limb Girdle Muscular Dystrophy, Type 2B/R2. Participants must have specific genetic mutations related to the condition, be able to perform motor tests, and not have high levels of certain antibodies. They can't join if they've had recent gene therapy or other investigational treatments, significant health issues, or need chronic drug treatment that could pose risks.

What is being tested?

The study is testing SRP-6004's safety when given through an IV infusion to people who can walk but have LGMD2B/R2. It aims to understand how well participants tolerate this potential new treatment and its effectiveness in treating their muscular dystrophy.

What are the potential side effects?

While the trial primarily focuses on safety and tolerability of SRP-6004 for muscular dystrophy patients, potential side effects are not detailed here. Generally, such interventions may cause immune reactions or muscle-related symptoms.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have specific genetic mutations in the DYSF gene.

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My arm and leg muscles are suitable for biopsy.

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I can participate in tests that measure my muscle movements.

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I can walk on my own without help.

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My test shows low levels of rAAVrh74 antibodies.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: SRP-6004Experimental Treatment1 Intervention

Participants will receive single IV infusion of SRP-6004 on Day 1.

0 / 5Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

The most common treatments for Limb-Girdle Muscular Dystrophy (LGMD) include gene therapy and exon skipping, which aim to correct or bypass genetic mutations responsible for the disease. SRP-6004, for example, is a gene therapy targeting dysferlin deficiency in LGMD2B/R2. This approach involves delivering a functional copy of the dysferlin gene to muscle cells, thereby restoring the production of the dysferlin protein, which is essential for muscle membrane repair. These treatments are significant for LGMD patients as they target the root cause of the disease, offering the potential for more effective and durable therapeutic outcomes compared to symptomatic treatments.

Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy.Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.