Disease Directory Prenatal-onset spinal muscular atrophy with congenital bone fractures
Neuromuscular

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Type

Disease

Gene

ASCC1, TRIP4

About Prenatal-onset spinal muscular atrophy with congenital bone fractures

Prenatal-onset spinal muscular atrophy with congenital bone fractures is a rare disease catalogued by Orphanet (ORPHA:486811). It is associated with the ASCC1, TRIP4 genes. 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 Prenatal-onset spinal muscular atrophy with congenital bone fractures trials.

Search ClinicalTrials.gov for "Prenatal-onset spinal muscular atrophy with congenital bone fractures" or filter by Orphanet code ORPHA:486811 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:486811)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Prenatal-onset spinal muscular atrophy with congenital bone fractures trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Prenatal-onset spinal muscular atrophy with congenital bone fractures. Updated daily.