Disease Directory Hereditary hyperekplexia
Rare Disease

Hereditary hyperekplexia

Type

Disease

Gene

ATAD1, GLRA1, GLRB, GPHN, SLC6A5

About Hereditary hyperekplexia

Hereditary hyperekplexia is a rare disease catalogued by Orphanet (ORPHA:3197). It is associated with the ATAD1, GLRA1, GLRB 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 Hereditary hyperekplexia trials.

Search ClinicalTrials.gov for "Hereditary hyperekplexia" or filter by Orphanet code ORPHA:3197 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:3197)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Hereditary hyperekplexia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hereditary hyperekplexia. Updated daily.