Disease Directory Scapuloperoneal spinal muscular atrophy
Neuromuscular

Scapuloperoneal spinal muscular atrophy

Type

Disease

Gene

TRPV4

About Scapuloperoneal spinal muscular atrophy

Scapuloperoneal spinal muscular atrophy is a rare disease catalogued by Orphanet (ORPHA:431255). It is associated with the TRPV4 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 Scapuloperoneal spinal muscular atrophy trials.

Search ClinicalTrials.gov for "Scapuloperoneal spinal muscular atrophy" or filter by Orphanet code ORPHA:431255 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:431255)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Scapuloperoneal spinal muscular atrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Scapuloperoneal spinal muscular atrophy. Updated daily.