Disease Directory Carbamoyl-phosphate synthetase 1 deficiency
Rare Disease

Carbamoyl-phosphate synthetase 1 deficiency

Type

Disease

Gene

CPS1

About Carbamoyl-phosphate synthetase 1 deficiency

Carbamoyl-phosphate synthetase 1 deficiency is a rare disease catalogued by Orphanet (ORPHA:147). It is associated with the CPS1 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 Carbamoyl-phosphate synthetase 1 deficiency trials.

Search ClinicalTrials.gov for "Carbamoyl-phosphate synthetase 1 deficiency" or filter by Orphanet code ORPHA:147 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:147)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Carbamoyl-phosphate synthetase 1 deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Carbamoyl-phosphate synthetase 1 deficiency. Updated daily.