RecruitingNCT01403402
Neuromuscular
Ullrich Congenital Muscular Dystrophy
Also known as UCMD, Ullrich CMD, COL6-related dystrophy severe
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,
ORPHA:75840 ↗Gene COL6A1/A2/A3Prevalence Less than 1 in 100,000Onset Birth or early infancyAutosomal recessive (most commonly) or dominant
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 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
Neonatal hypotonia (floppy infant)Proximal joint contractures with distal hyperlaxityProgressive respiratory insufficiency requiring NIVKyphoscoliosisProtruding calcaneiFollicular hyperkeratosisFeeding difficulties in infancy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Ullrich Congenital Muscular Dystrophy. Not eligibility rules; those are set by each study.
- 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
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).