Disease Directory Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Ophthalmological

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Type

Disease

Gene

PCYT1A

About Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is a rare disease catalogued by Orphanet (ORPHA:85167). It is associated with the PCYT1A 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 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome trials.

Search ClinicalTrials.gov for "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" or filter by Orphanet code ORPHA:85167 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:85167)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome. Updated daily.