Disease Directory Lethal ataxia with deafness and optic atrophy
Neurological

Lethal ataxia with deafness and optic atrophy

Type

Disease

Gene

PRPS1

About Lethal ataxia with deafness and optic atrophy

Lethal ataxia with deafness and optic atrophy is a rare disease catalogued by Orphanet (ORPHA:1187). It is associated with the PRPS1 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 Lethal ataxia with deafness and optic atrophy trials.

Search ClinicalTrials.gov for "Lethal ataxia with deafness and optic atrophy" or filter by Orphanet code ORPHA:1187 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:1187)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Lethal ataxia with deafness and optic atrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Lethal ataxia with deafness and optic atrophy. Updated daily.