Neuromuscular

COL6-Related Myopathy

Also known as collagen VI myopathy, Bethlem-Ullrich spectrum, COL6-related dystrophy

ORPHA:536 ↗Gene COL6A1 Gene COL6A2 Gene COL6A3Prevalence Less than 1 in 100,000 collectivelyOnset Birth (Ullrich spectrum) to adulthood (Bethlem spectrum)Autosomal dominant or recessive

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studies recruiting now

as of 7 Sept 2026

studies registered in total

as of 7 Sept 2026

countries with a recruiting site

as of 7 Sept 2026

None

recruiting study posted to date

among recruiting studies

Recruiting trials

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1 study is registered for COL6-Related Myopathy, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.

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NORD ↗GARD ↗Orphanet ORPHA:536 ↗

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

Proximal and distal muscle weakness (spectrum of severity)Joint contractures (proximal) with distal joint hyperlaxityRespiratory insufficiency (more severe in Ullrich end of spectrum)Follicular hyperkeratosis and characteristic skin changesKeloid or hypertrophic scarringScoliosis and rigid spineProgressive loss of ambulation in severe forms

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Before you apply

Things trial teams commonly ask about for COL6-Related Myopathy. Not eligibility rules; those are set by each study.

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

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).