Inborn disorder of purine metabolism
MONDO:0019236An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
Also known as: inborn error of purine nucleobase metabolic process, inborn purine nucleobase metabolic process disorder, rare inborn error of purine nucleobase metabolic process, disorder of purine metabolism
14 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
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Gene therapy for 'Bubble Boy' disease under Long-Term watch
Disease control ENROLLING_BY_INVITATIONThis study follows about 50 people with a rare immune disorder called ADA-SCID who have received a gene therapy treatment called Strimvelis. The goal is to track their health for many years to see if the treatment remains safe and effective. Researchers will monitor for side effe…
Sponsor: Fondazione Telethon • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Gene therapy survivors monitored for decades in new study
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows 70 people who previously received gene therapy for a rare immune disorder called ADA-SCID. Researchers want to see how well the treatment worked over time and check for any long-term side effects. No new treatment is given—just regular health checkups.
Sponsor: University of California, Los Angeles • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC