Centronuclear Myopathy Clinical Trials 2026 — Find Recruiting Studies

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 weakness Respiratory failure requiring mechanical ventilation (XLMTM) Facial weakness and ophthalmoplegia Feeding difficulties and requirement for nasogastric or gastrostomy feeding Skeletal deformities including scoliosis Hepatomegaly (in XLMTM due to MTM1 role in liver) Delayed or absent achievement of motor milestones

Clinical Trial Eligibility Tips

What to know before applying to Centronuclear Myopathy trials.

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