X-linked myotubular myopathy
MONDO:0010683A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.
Also known as: MTM, X-linked centronuclear myopathy, X-linked myotubular myopathy, XLCNM, XLMTM, centronuclear myopathy, X-linked, myotubular myopathy, X-linked, X-linked recessive, CNMX
8 clinical trials for this condition and its sub-types, 4 tagged with X-linked myotubular myopathy itself.
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Browse by category →Sub-types of X-linked myotubular myopathy
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Experimental gene therapy aims to help boys with rare muscle disease breathe easier
Disease control Recruiting nowThis 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 t…
Phase 1/2 • Sponsor: Astellas Gene Therapies • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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New study aims to uncover hidden liver risks in rare muscle disease
Knowledge-focused Recruiting nowThis study follows about 50 boys under 18 with X-linked myotubular myopathy (XLMTM), a rare genetic muscle condition, to see how often they develop liver problems like cholestasis. No drugs are given—researchers simply collect health data, including liver scans, over one year. Th…
Sponsor: Astellas Gene Therapies • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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Gene hunt for rare muscle diseases could unlock future treatments
Knowledge-focused Recruiting nowThis research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC