Disease Directory Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Neurological

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Type

Disease

Gene

PEX6

About Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome is a rare disease catalogued by Orphanet (ORPHA:95433). It is associated with the PEX6 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 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome trials.

Search ClinicalTrials.gov for "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" or filter by Orphanet code ORPHA:95433 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:95433)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome. Updated daily.