Disease Directory Combined oxidative phosphorylation defect type 13
Rare Disease

Combined oxidative phosphorylation defect type 13

Type

Disease

Gene

PNPT1

About Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 13 is a rare disease catalogued by Orphanet (ORPHA:319514). It is associated with the PNPT1 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 Combined oxidative phosphorylation defect type 13 trials.

Search ClinicalTrials.gov for "Combined oxidative phosphorylation defect type 13" or filter by Orphanet code ORPHA:319514 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:319514)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Combined oxidative phosphorylation defect type 13 trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Combined oxidative phosphorylation defect type 13. Updated daily.