About Beta-ketothiolase deficiency
Beta-ketothiolase deficiency is a rare disease catalogued by Orphanet (ORPHA:134). It is associated with the ACAT1 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 Beta-ketothiolase deficiency trials.
Search ClinicalTrials.gov for "Beta-ketothiolase deficiency" or filter by Orphanet code ORPHA:134 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
Find recruiting Beta-ketothiolase deficiency trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Beta-ketothiolase deficiency. Updated daily.