2 recruiting, 1 completed. 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 1 | 1 | Completed 1 |
Follow Purine Nucleoside Phosphorylase Deficiency: new trials by email Literature Review of Purine Nucleoside Phosphorylase Deficiency trials Research Report on Purine Nucleoside Phosphorylase Deficiency
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency | Recruiting | National Human Genome Research Institute (NHGRI) | 999 | 2023-12-19 | 2026-08-19 | |
| Longitudinal Study of Neurodegenerative Disorders Palliative Care, Hematopoetic Stem Cell Transplantation - MLD, Krabbe Disease | Recruiting | University of Pittsburgh | 1500 | 2012-01-11 | 2026-02-09 | |
| Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Allogeneic Bone Marrow Transplantation, Cyclosporine, Laboratory Biomarker Analysis - Adenosine Deaminase Deficiency, Autosomal Recessive Disorder | Phase 1 | Completed | Fred Hutchinson Cancer Center | 6 | 1997-08-11 | 2019-07-29 |
ADA2 protein, human (1) · Adenine phosphoribosyltransferase deficiency (1) · Adenosine monophosphate deaminase deficiency (1) · Adenylosuccinate lyase deficiency (1) · Anemia (1) · Arts syndrome (1) · Beta-Ureidopropionase Deficiency (1) · Charcot-Marie-Tooth Disease (1) · Dihydropyrimidinase Deficiency (1) · Dihydropyrimidine Dehydrogenase Deficiency (1) · Gaucher Disease (1) · Genee-Wiedemann syndrome (1) · Hemolysis (1) · Hyper-IgM Immunodeficiency Syndrome (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3) · Genetic Diseases, Inborn (3) · Genetic Diseases, X-Linked (3) · Nutritional and Metabolic Diseases (3) · Brain Diseases (2) · Brain Diseases, Metabolic (2) · Brain Diseases, Metabolic, Inborn (2) · Central Nervous System Diseases (2) · Hemic and Lymphatic Diseases (2) · Heredodegenerative Disorders, Nervous System (2) · Immunologic Deficiency Syndromes (2) · Metabolic Diseases (2) · Metabolism, Inborn Errors (2) · Nervous System Diseases (2) · Neurodegenerative Diseases (2)
Cyclosporine (1) · Cyclosporins (1) · Mycophenolic Acid (1) · Palliative Care (1) · Whole-Body Irradiation (1)
Fred Hutchinson Cancer Center (1) · National Human Genome Research Institute (NHGRI) (1) · University of Pittsburgh (1)
United States (3)
Lauri Burroughs (1) · Oleg A Shchelochkov, M.D. (1)
P01HL036444 (1), P30CA015704 (1)