Experimental gene therapy aims to help boys with rare muscle disease breathe easier

NCT ID NCT07052929

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This early-phase trial tests a new gene therapy called ASP2957 for X-linked myotubular myopathy (XLMTM), a rare muscle disease present at birth that often requires a ventilator to breathe. The therapy delivers a healthy copy of the MTM1 gene using a modified virus. Nine boys up to 3 years old will receive a single infusion, and researchers will monitor safety and find the best dose.

What this could mean

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

Active substance

ASP2957 (a gene therapy using a modified virus to deliver a healthy MTM1 gene)

What this could lead to

If it works, this could point toward a treatment that improves muscle function and reduces the need for a ventilator in boys with XLMTM.

What could go wrong

This is the first time ASP2957 is tested in humans, so safety and effectiveness are unknown. The trial is very small (9 boys), and results may not apply to all patients. There are risks from the gene therapy and immune-suppressing drugs.

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for X-LINKED MYOTUBULAR MYOPATHY are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

congenital structural myopathy X-linked myotubular myopathy

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Lurie Children's Hospital

    RECRUITING

    Chicago, Illinois, 60611, United States

  • Oregon Health & Science University

    RECRUITING

    Portland, Oregon, 97239, United States

  • The Hospital for Sick Children

    RECRUITING

    Toronto, Ontario, Canada