RecruitingNCT01403402
Neuromuscular
Bethlem Myopathy
Also known as COL6-related myopathy, benign congenital myopathy
Bethlem Myopathy is the milder end of the COL6-related myopathy spectrum, caused by heterozygous mutations in one of the three collagen VI genes (COL6A1, COL6A2, or COL6A3). It presents with proximal muscle weakness, joint hyperlaxity in in
ORPHA:610 ↗Gene COL6A1Gene COL6A2Gene COL6A3Prevalence Less than 1 in 100,000Onset Birth to early childhood; symptoms may be subtle initiallyAutosomal dominant (occasionally recessive)
1
studies recruiting now
as of 7 Sept 2026
5
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
27 Jul 2011
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Bethlem Myopathy
Bethlem Myopathy is the milder end of the COL6-related myopathy spectrum, caused by heterozygous mutations in one of the three collagen VI genes (COL6A1, COL6A2, or COL6A3). It presents with proximal muscle weakness, joint hyperlaxity in infancy transitioning to contractures in older patients, and characteristic skin changes including follicular hyperkeratosis and keloid scarring. The condition is slowly progressive but most patients remain ambulatory throughout life.
Common clinical features
Proximal limb muscle weaknessFinger flexion contractures and elbow flexion contracturesJoint hyperlaxity in infancyFollicular hyperkeratosis (rough bumpy skin over extensor surfaces)Slowly progressive loss of walking distanceMildly elevated or normal serum creatine kinaseRigid spine in some cases
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Bethlem Myopathy. Not eligibility rules; those are set by each study.
- COL6-related trials often enrol both Bethlem and Ullrich patients on a spectrum basis — confirm whether your trial distinguishes between subtypes or uses COL6 mutation status alone
- Skin biopsy for collagen VI immunofluorescence and fibroblast culture studies may be requested as biomarker endpoints alongside genetic confirmation
- Six-minute walk test and hand-held dynamometry are standard endpoints; formal physiotherapy assessment prior to application is advisable
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).