RecruitingPhase 1 / Phase 2NCT07052929
Neuromuscular
Centronuclear Myopathy
Also known as CNM, myotubular myopathy, X-linked myotubular myopathy
Centronuclear Myopathy is a group of congenital myopathies defined by the abnormal centralisation of nuclei within muscle fibres on biopsy. The most severe form, X-linked myotubular myopathy (XLMTM), is caused by MTM1 mutations and presents
ORPHA:596 ↗Gene MTM1Gene DNM2Gene BIN1Prevalence 1 in 50,000 (X-linked form); overall rarerOnset Congenital (X-linked form) to adult (autosomal forms)X-linked recessive (MTM1), autosomal dominant (DNM2), autosomal recessive (BIN1)
8
studies recruiting now
as of 7 Sept 2026
22
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
17 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT06581146
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
RecruitingNCT00272883
Molecular and Genetic Studies of Congenital Myopathies
RecruitingNot applicableNCT07478172
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
RecruitingNCT07021820
Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 8 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Centronuclear Myopathy
Centronuclear Myopathy is a group of congenital myopathies defined by the abnormal centralisation of nuclei within muscle fibres on biopsy. The most severe form, X-linked myotubular myopathy (XLMTM), is caused by MTM1 mutations and presents with profound neonatal hypotonia and respiratory failure requiring ventilation in nearly all affected males. Autosomal forms due to DNM2 or BIN1 mutations are generally milder and later in onset.
Common clinical features
Profound neonatal hypotonia (XLMTM) or childhood-onset weaknessRespiratory failure requiring mechanical ventilation (XLMTM)Facial weakness and ophthalmoplegiaFeeding difficulties and requirement for nasogastric or gastrostomy feedingSkeletal deformities including scoliosisHepatomegaly (in XLMTM due to MTM1 role in liver)Delayed or absent achievement of motor milestones
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Centronuclear Myopathy. Not eligibility rules; those are set by each study.
- Gene-specific eligibility is strict — MTM1 (XLMTM) trials are separate from DNM2 and BIN1 trials; confirm your gene and mutation before applying to any trial
- Ventilator dependency and mode of respiratory support (invasive vs non-invasive) are key eligibility stratifiers — document ventilator settings and hours per day
- For XLMTM gene therapy trials, prior AAV exposure (pre-existing AAV antibody titres) is a common exclusion criterion; serum AAV neutralising antibody testing should be completed early
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).