Disease Directory Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Rare Disease

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Type

Malformation syndrome

Gene

CSPP1, KIAA0586

About Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with Jeune asphyxiating thoracic dystrophy is a rare disease catalogued by Orphanet (ORPHA:397715). It is associated with the CSPP1, KIAA0586 genes. 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 Joubert syndrome with Jeune asphyxiating thoracic dystrophy trials.

Search ClinicalTrials.gov for "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" or filter by Orphanet code ORPHA:397715 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:397715)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Joubert syndrome with Jeune asphyxiating thoracic dystrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Joubert syndrome with Jeune asphyxiating thoracic dystrophy. Updated daily.