Disease Directory Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Neuromuscular

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Type

Disease

Gene

TRIP4

About Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is a rare disease catalogued by Orphanet (ORPHA:486815). It is associated with the TRIP4 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome trials.

Search ClinicalTrials.gov for "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" or filter by Orphanet code ORPHA:486815 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:486815)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome. Updated daily.