Disease Directory Thiamine-responsive maple syrup urine disease
Metabolic

Thiamine-responsive maple syrup urine disease

Type

Clinical subtype

Gene

DBT

About Thiamine-responsive maple syrup urine disease

Thiamine-responsive maple syrup urine disease is a rare disease catalogued by Orphanet (ORPHA:268184). It is associated with the DBT 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 Thiamine-responsive maple syrup urine disease trials.

Search ClinicalTrials.gov for "Thiamine-responsive maple syrup urine disease" or filter by Orphanet code ORPHA:268184 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:268184)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Thiamine-responsive maple syrup urine disease trials

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