Disease Directory Hereditary butyrylcholinesterase deficiency
Rare Disease

Hereditary butyrylcholinesterase deficiency

Type

Disease

Gene

BCHE

About Hereditary butyrylcholinesterase deficiency

Hereditary butyrylcholinesterase deficiency is a rare disease catalogued by Orphanet (ORPHA:132). It is associated with the BCHE 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 Hereditary butyrylcholinesterase deficiency trials.

Search ClinicalTrials.gov for "Hereditary butyrylcholinesterase deficiency" or filter by Orphanet code ORPHA:132 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:132)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Hereditary butyrylcholinesterase deficiency trials

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