Disease Directory Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Rare Disease

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Type

Malformation syndrome

Gene

PAM16

About Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare disease catalogued by Orphanet (ORPHA:401979). It is associated with the PAM16 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 spondylometaphyseal dysplasia, Mégarbané type trials.

Search ClinicalTrials.gov for "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" or filter by Orphanet code ORPHA:401979 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:401979)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type. Updated daily.