Inborn disorder of purine or pyrimidine metabolism
MONDO:0019254Also known as: inborn purine-pyrimidine metabolic disorder, disorder of purine or pyrimidine metabolism, purine-pyrimidine metabolic disorder
50 clinical trials for this condition and its sub-types, 1 tagged with Inborn disorder of purine or pyrimidine metabolism itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn disorder of purine or pyrimidine metabolism
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Disorder of glycolysis 1 trial · 27 incl. sub-types
16 sub-types
- Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
- Pyruvate kinase deficiency of red cells 10 trials
- Permanent neonatal diabetes mellitus 2 trials Sub-types →
- Glycogen storage disease VII 1 trial
- Glycogen storage disease due to aldolase A deficiency 1 trial
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
- Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
- Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
- Charcot-Marie-Tooth disease type 4G 0 trials
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
- Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
- Hyperinsulinemic hypoglycemia, familial, 3 0 trials
- Lactic aciduria due to D-lactic acid 0 trials
- Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
- Triosephosphate isomerase deficiency 0 trials
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Inborn disorder of purine metabolism 0 trials · 14 incl. sub-types
16 sub-types
- Adenine phosphoribosyltransferase deficiency 6 trials
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 6 trials
- Adenylosuccinate lyase deficiency 2 trials
- Purine nucleoside phosphorylase deficiency 2 trials
- AICA-ribosiduria 1 trial
- Adenosine monophosphate deaminase deficiency 1 trial
- Developmental and epileptic encephalopathy, 35 1 trial
- Hereditary xanthinuria 0 trials · 1 incl. sub-types Sub-types →
- Hypoxanthine-guanine phosphoribosyltransferase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Phosphoribosylpyrophosphate synthetase superactivity 1 trial Sub-types →
- Charcot-Marie-Tooth disease X-linked recessive 5 0 trials
- PAICS deficiency 0 trials
- X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 0 trials
- Familial juvenile hyperuricemic nephropathy type 1 0 trials
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0 trials
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 trials
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Inborn disorder of pyrimidine metabolism 0 trials · 11 incl. sub-types
9 sub-types
- Mitochondrial DNA depletion syndrome, myopathic form 4 trials
- Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
- Dihydropyrimidine dehydrogenase deficiency 3 trials
- Beta-ureidopropionase deficiency 1 trial
- Dihydropyrimidinuria 1 trial
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 1 trial
- Orotic aciduria 1 trial Sub-types →
- Developmental and epileptic encephalopathy, 50 0 trials
- Hyper-beta-alaninemia 0 trials
Most studied deeper sub-types
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Could a daily pill help kids with rare blood disorder?
Disease control OngoingThis study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Could a pill replace blood transfusions for kids with rare anemia?
Disease control OngoingThis phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Bubble boy disease: gene therapy trial offers hope for immune system repair
Disease control OngoingThis trial tests a gene therapy for children with ADA-SCID, a severe immune disorder often called 'bubble boy disease.' Doctors take the child's own blood stem cells, add a working gene, and return them via infusion. The goal is to restore immune function and improve survival. Th…
Phase 1/2 • Sponsor: University of California, Los Angeles • Aim: Disease control
Last updated Aug 22, 2026 00:00 UTC
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Lifeline drug mitapivat keeps flowing for rare blood disorder patients
Disease control By invitation onlyThis study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …
Phase 4 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Gene therapy for 'Bubble Boy' disease under Long-Term watch
Disease control By invitation onlyThis 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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Gene therapy offers hope for rare blood disorder
Disease control PausedThis study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…
Phase 2 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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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
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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
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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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Global registry launches to unlock secrets of rare blood disorder
Knowledge-focused OngoingThis study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…
Sponsor: Agios Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC
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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
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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
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Gene therapy survivors monitored for decades in new study
Knowledge-focused By invitation onlyThis 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