Disease Directory Adenine phosphoribosyltransferase deficiency
Rare Disease

Adenine phosphoribosyltransferase deficiency

Type

Disease

Gene

APRT

About Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency is a rare disease catalogued by Orphanet (ORPHA:976). It is associated with the APRT 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 Adenine phosphoribosyltransferase deficiency trials.

Search ClinicalTrials.gov for "Adenine phosphoribosyltransferase deficiency" or filter by Orphanet code ORPHA:976 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:976)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Adenine phosphoribosyltransferase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Adenine phosphoribosyltransferase deficiency. Updated daily.