Disease Directory Guanidinoacetate methyltransferase deficiency
Rare Disease

Guanidinoacetate methyltransferase deficiency

Type

Disease

Gene

GAMT

About Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency is a rare disease catalogued by Orphanet (ORPHA:382). It is associated with the GAMT 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 Guanidinoacetate methyltransferase deficiency trials.

Search ClinicalTrials.gov for "Guanidinoacetate methyltransferase deficiency" or filter by Orphanet code ORPHA:382 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:382)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Guanidinoacetate methyltransferase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Guanidinoacetate methyltransferase deficiency. Updated daily.