Inborn disorder of pyrimidine metabolism
MONDO:0019238ANPM
Also known as: inborn error of pyrimidine nucleobase metabolic process, inborn pyrimidine nucleobase metabolic process disorder, pyrimidine metabolic disorder, rare inborn error of pyrimidine nucleobase metabolic process, disorder of pyrimidine metabolism
11 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of pyrimidine metabolism itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
Sub-types of Inborn disorder of pyrimidine metabolism
-
4 sub-types
-
Beta-ureidopropionase deficiency 1 trial
-
Dihydropyrimidinuria 1 trial
-
Orotic aciduria 1 trial
1 sub-type
-
Hyper-beta-alaninemia 0 trials
-
Experimental treatment aims to boost mitochondrial DNA in rare disease
Disease control OngoingThis study tests two natural substances, deoxythymidine and deoxycytidine, in people with TK2 deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The goal is to see if these nucleotide precursors can help cells make more mitochondrial DNA and …
Phase 1/2 • Sponsor: Columbia University • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
-
New stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
-
Gene test may cut chemo side effects
Knowledge-focused PausedThis study looks at whether giving doctors a patient's genetic information can help them personalize chemotherapy doses and reduce serious side effects. About 860 adults with certain cancers (like breast, stomach, or head and neck) will be randomly assigned to have their doctors …
Sponsor: University of Chicago • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
-
Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused By invitation onlyThis study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC