About Ullrich Congenital Muscular Dystrophy
Ullrich Congenital Muscular Dystrophy is the severe end of the COL6-related myopathy spectrum, caused by bi-allelic loss-of-function or dominant negative mutations in COL6A1, COL6A2, or COL6A3. It presents at birth with profound hypotonia, proximal joint contractures, and distal joint hyperlaxity, and is associated with progressive respiratory failure requiring ventilatory support, typically within the first decade. Most affected individuals never achieve independent ambulation.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Ullrich Congenital Muscular Dystrophy trials.
Respiratory function (FVC% predicted in sitting and supine positions) is a key eligibility criterion and primary endpoint in most trials; obtain pulmonary function tests before applying
Bi-allelic COL6 mutation confirmation via sequencing is standard, though muscle biopsy showing absent or markedly reduced collagen VI by immunofluorescence is often requested alongside
Trials targeting UCMD may have age restrictions; paediatric-specific trials are more commonly available for this early-onset subtype
Patient Resources
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