Disease Directory Congenital central hypoventilation syndrome
Rare Disease

Congenital central hypoventilation syndrome

Type

Disease

Gene

LBX1, PHOX2B, EDN3, GDNF, MYO1H, BDNF

About Congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome is a rare disease catalogued by Orphanet (ORPHA:661). It is associated with the LBX1, PHOX2B, EDN3 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 Congenital central hypoventilation syndrome trials.

Search ClinicalTrials.gov for "Congenital central hypoventilation syndrome" or filter by Orphanet code ORPHA:661 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:661)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Congenital central hypoventilation syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital central hypoventilation syndrome. Updated daily.