Disease Directory Autosomal dominant congenital benign spinal muscular atrophy
Neuromuscular

Autosomal dominant congenital benign spinal muscular atrophy

Type

Disease

Gene

TRPV4

About Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant congenital benign spinal muscular atrophy is a rare disease catalogued by Orphanet (ORPHA:1216). 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 Autosomal dominant congenital benign spinal muscular atrophy trials.

Search ClinicalTrials.gov for "Autosomal dominant congenital benign spinal muscular atrophy" or filter by Orphanet code ORPHA:1216 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:1216)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Autosomal dominant congenital benign spinal muscular atrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Autosomal dominant congenital benign spinal muscular atrophy. Updated daily.