Disease Directory Intermediate maple syrup urine disease
Metabolic

Intermediate maple syrup urine disease

Type

Clinical subtype

Gene

BCKDHA, BCKDHB, DBT, PPM1K

About Intermediate maple syrup urine disease

Intermediate maple syrup urine disease is a rare disease catalogued by Orphanet (ORPHA:268162). It is associated with the BCKDHA, BCKDHB, DBT 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 Intermediate maple syrup urine disease trials.

Search ClinicalTrials.gov for "Intermediate maple syrup urine disease" or filter by Orphanet code ORPHA:268162 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:268162)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Intermediate maple syrup urine disease trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Intermediate maple syrup urine disease. Updated daily.