Disease Directory Isolated ATP synthase deficiency
Rare Disease

Isolated ATP synthase deficiency

Type

Disease

Gene

MT-ATP6, ATP5MK, MT-ATP8, ATPAF2, ATP5F1E, ATP5F1A

About Isolated ATP synthase deficiency

Isolated ATP synthase deficiency is a rare disease catalogued by Orphanet (ORPHA:254913). It is associated with the MT-ATP6, ATP5MK, MT-ATP8 genes. 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 Isolated ATP synthase deficiency trials.

Search ClinicalTrials.gov for "Isolated ATP synthase deficiency" or filter by Orphanet code ORPHA:254913 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:254913)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Isolated ATP synthase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Isolated ATP synthase deficiency. Updated daily.