Disease Directory Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Neurological

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Type

Disease

Gene

ASAH1

About Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a rare disease catalogued by Orphanet (ORPHA:2590). It is associated with the ASAH1 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 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome trials.

Search ClinicalTrials.gov for "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome" or filter by Orphanet code ORPHA:2590 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:2590)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Spinal muscular atrophy-progressive myoclonic epilepsy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome. Updated daily.