Disease Directory Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Neurological

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Type

Disease

Gene

UCHL1

About Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a rare disease catalogued by Orphanet (ORPHA:352654). It is associated with the UCHL1 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 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome trials.

Search ClinicalTrials.gov for "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" or filter by Orphanet code ORPHA:352654 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:352654)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome. Updated daily.