adenosine deaminase deficiency
Information
- Disease name
- adenosine deaminase deficiency
- Disease ID
- DOID:5810
- Description
- "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency, url:https\://pubmed.ncbi.nlm.nih.gov/2166947/, url:https\://pubmed.ncbi.nlm.nih.gov/2783588/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00008450 | Completed | Phase 1 | Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant | August 11, 1997 | December 26, 2018 |
| NCT01279720 | Completed | Phase 1/Phase 2 | Gene Therapy ADA Deficiency | October 2003 | November 2013 |
| NCT01380990 | Completed | Phase 1/Phase 2 | Lentiviral (LV) Gene Therapy for Adenosine Deaminase (ADA) Deficiency | November 15, 2012 | December 23, 2019 |
| NCT01420627 | Completed | Phase 3 | EZN-2279 in Patients With ADA-SCID | January 24, 2014 | May 29, 2019 |
| NCT02022696 | Completed | Phase 1 | Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector | December 16, 2013 | September 21, 2017 |
| NCT03878069 | Completed | Registry Study of Revcovi Treatment in Patients With ADA-SCID | June 25, 2019 | January 18, 2023 | |
| NCT04049084 | Enrolling by invitation | An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID | September 26, 2019 | August 2035 | |
| NCT05300334 | Unknown status | Investigation of ADA Enzyme Deficiency | October 10, 2019 | October 10, 2022 | |
| NCT05300347 | Unknown status | Observational Study Evaluating the Prevalence of Enzyme Deficiency in Pulmonology Clinics (ADA) | June 17, 2021 | June 17, 2023 | |
| NCT05300373 | Unknown status | Evaluation of Adenosine Deaminase (ADA) Enzyme Deficiency in Patients With Lymphopenia and/or Elevated Immunoglobulin E | December 3, 2021 | December 3, 2023 |
- Disase is a (Disease Ontology)
- DOID:627
- Cross Reference ID (Disease Ontology)
- GARD:5748
- Cross Reference ID (Disease Ontology)
- ICD10CM:D81.30
- Cross Reference ID (Disease Ontology)
- MIM:102700
- Cross Reference ID (Disease Ontology)
- NCI:C3962
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190999009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268124
- Exact Synonym (Disease Ontology)
- ADA