About COL6-Related Myopathy
COL6-Related Myopathy encompasses the clinical spectrum from Bethlem Myopathy (mild, dominant) to Ullrich Congenital Muscular Dystrophy (severe, recessive), caused by mutations in the genes encoding the three chains of collagen VI. Collagen VI is a structural extracellular matrix protein critical for maintaining the integrity of the muscle fibre basement membrane, and its deficiency leads to mitochondrial dysfunction and increased apoptosis. Disease severity correlates with the degree of collagen VI deficiency in the extracellular matrix.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to COL6-Related Myopathy trials.
Spectrum-wide trials often enrol both Bethlem and Ullrich patients under the COL6-related myopathy umbrella; genetic subtype and zygosity (heterozygous vs bi-allelic) are key stratification variables
Collagen VI protein analysis by immunofluorescence on skin or muscle fibroblast culture is a key biomarker and may be an endpoint; baseline skin punch biopsy may be required
Six-minute walk test, motor function measure (MFM-32), and pulmonary function tests are standard trial endpoints across the spectrum — baseline assessments should be obtained from a specialist neuromuscular centre
Patient Resources
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