Disease Directory BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Neuromuscular

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

Type

Etiological subtype

Gene

BICD2

About BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare disease catalogued by Orphanet (ORPHA:363454). It is associated with the BICD2 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 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy trials.

Search ClinicalTrials.gov for "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy" or filter by Orphanet code ORPHA:363454 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

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Orphanet

European reference resource for rare diseases (ORPHA:363454)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy. Updated daily.