Experimental gene therapy for rare muscle disease tested in just 2 people

NCT ID NCT05906251

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing protein called dysferlin. Only 2 participants were enrolled, and the study was terminated early, so we have very limited information about its effects.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

SRP-6004 (a gene therapy given as a single IV infusion)

What this could lead to

If successful, this could point toward a treatment that restores dysferlin protein in muscle cells, potentially slowing or stopping muscle weakness in LGMD2B/R2.

What could go wrong

This was a very early (Phase 1) trial with only 2 participants and was terminated, so we don't know if it works or is safe. Gene therapies can cause immune reactions or other serious side effects.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

autosomal recessive limb-girdle muscular dystrophy type 2B limb-girdle muscular dystrophy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205, United States