Disease Directory Severe autosomal recessive macrothrombocytopenia
Blood

Severe autosomal recessive macrothrombocytopenia

Type

Disease

Gene

PRKACG, GNE

About Severe autosomal recessive macrothrombocytopenia

Severe autosomal recessive macrothrombocytopenia is a rare disease catalogued by Orphanet (ORPHA:438207). It is associated with the PRKACG, GNE 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 Severe autosomal recessive macrothrombocytopenia trials.

Search ClinicalTrials.gov for "Severe autosomal recessive macrothrombocytopenia" or filter by Orphanet code ORPHA:438207 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:438207)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Severe autosomal recessive macrothrombocytopenia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Severe autosomal recessive macrothrombocytopenia. Updated daily.