Nemaline Myopathy Clinical Trials 2026 — Find Recruiting Studies

About Nemaline Myopathy

Nemaline Myopathy is a clinically and genetically heterogeneous congenital myopathy defined by the presence of nemaline rods (abnormal protein aggregates) on muscle biopsy. At least 12 causative genes have been identified, with NEB (nebulin) and ACTA1 (skeletal muscle alpha-actin) accounting for the majority of cases. Clinical severity ranges from severe neonatal forms with respiratory failure to mild adult-onset weakness.

Common Clinical Features

Generalised muscle hypotonia from birth or early childhood Proximal greater than distal muscle weakness Facial weakness and a long, narrow face High-arched palate and feeding difficulties Respiratory insufficiency (variable severity) Scoliosis and foot deformities Delayed motor milestones

Clinical Trial Eligibility Tips

What to know before applying to Nemaline Myopathy trials.

Muscle biopsy demonstrating nemaline rods by Gomori trichrome staining is the diagnostic hallmark and is usually required for trial enrolment alongside genetic confirmation

Gene-specific trials exist (especially for ACTA1 and NEB); identifying your causative gene via a congenital myopathy NGS panel is essential before applying

Pulmonary function testing (FVC, MIP, MEP) is a standard eligibility and endpoint measure, particularly for moderate-to-severe phenotypes