Congenital Fiber Type Disproportion Clinical Trials 2026 — Find Recruiting Studies

About Congenital Fiber Type Disproportion

Congenital Fiber Type Disproportion is a congenital myopathy defined histopathologically by type 1 muscle fibres that are at least 25% smaller than type 2 fibres, in the absence of other specific pathological features. It is a genetically heterogeneous condition with mutations in ACTA1, RYR1, and TPM3 among the recognised causes. The clinical course is variable, ranging from severe neonatal hypotonia with respiratory failure to mild, non-progressive weakness.

Common Clinical Features

Neonatal or infantile hypotonia Generalised muscle weakness with proximal predominance Respiratory insufficiency (variable, can be severe in neonates) Feeding difficulties in infancy Delayed motor milestones Joint contractures and foot deformities High-arched palate and dysmorphic facial features

Clinical Trial Eligibility Tips

What to know before applying to Congenital Fiber Type Disproportion trials.

Muscle biopsy with fibre type analysis (ATPase staining at pH 4.3 and 9.4) confirming the fibre type disproportion pattern is essential; biopsy reports must specify fibre diameter measurements

Gene panel sequencing covering congenital myopathy genes is required; the specific gene identified (ACTA1, RYR1, TPM3) may determine eligibility for gene-specific sub-studies

Pulmonary function tests including FVC supine and upright, and sleep study data, are standard eligibility parameters for moderate-to-severe phenotypes