Disease Directory Hirschsprung disease
Rare Disease

Hirschsprung disease

Type

Disease

Gene

ATP7A, ABCD1, ERBB2, ERBB3, SMO, RET

About Hirschsprung disease

Hirschsprung disease is a rare disease catalogued by Orphanet (ORPHA:388). It is associated with the ATP7A, ABCD1, ERBB2 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 Hirschsprung disease trials.

Search ClinicalTrials.gov for "Hirschsprung disease" or filter by Orphanet code ORPHA:388 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:388)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Hirschsprung disease trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hirschsprung disease. Updated daily.