Disease Directory Ethylmalonic encephalopathy
Neurological

Ethylmalonic encephalopathy

Type

Disease

Gene

ETHE1

About Ethylmalonic encephalopathy

Ethylmalonic encephalopathy is a rare disease catalogued by Orphanet (ORPHA:51188). It is associated with the ETHE1 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 Ethylmalonic encephalopathy trials.

Search ClinicalTrials.gov for "Ethylmalonic encephalopathy" or filter by Orphanet code ORPHA:51188 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:51188)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Ethylmalonic encephalopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Ethylmalonic encephalopathy. Updated daily.