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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for LIMB GIRDLE MUSCULAR DYSTROPHY are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
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
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can MRI scans reveal how ANO5 muscle disease progresses?
- Can MRI scans reveal the hidden pattern of muscle damage in a rare muscular dystrophy?
- Virtual group therapy aims to boost social skills in kids with rare muscle disease
- Paving the way: new study aims to sharpen tools for LGMD R1 trials
- One-Time gene therapy aims to halt rare muscle disease
- Experimental gene therapy targets rare muscle disease in first human test