RecruitingNCT06374719
Neuromuscular
Nemaline Myopathy
Also known as NEM, rod myopathy, nemaline rod disease
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
ORPHA:607 ↗Gene NEBGene ACTA1Gene TPM2Gene TPM3Prevalence 1 in 50,000Onset Congenital or early childhood (occasionally adult onset)Autosomal recessive or dominant (gene-dependent)
5
studies recruiting now
as of 7 Sept 2026
13
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
23 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00272883
Molecular and Genetic Studies of Congenital Myopathies
RecruitingNCT07488806
Natural History Study for Patients With Nemaline Myopathy in Spain
RecruitingNot applicableNCT07478172
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
RecruitingNCT06157268
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 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 childhoodProximal greater than distal muscle weaknessFacial weakness and a long, narrow faceHigh-arched palate and feeding difficultiesRespiratory insufficiency (variable severity)Scoliosis and foot deformitiesDelayed motor milestones
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Tyrosine
Before you apply
Things trial teams commonly ask about for Nemaline Myopathy. Not eligibility rules; those are set by each study.
- 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
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).