severe congenital neutropenia

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Information
Disease name
severe congenital neutropenia
Disease ID
DOID:0050590
Description
"A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections." [url:https\://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17133096]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01966367 Active, not recruiting Phase 1/Phase 2 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation March 2013 February 2030
NCT00295971 Completed Phase 1 Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease April 2005 December 2011
NCT00301834 Completed Phase 2 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders January 2005 September 2011
NCT00305708 Completed Phase 1/Phase 2 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission August 2000 July 2004
NCT01529827 Completed Phase 2 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies February 28, 2012 August 29, 2019
NCT01917708 Completed Phase 1 Bone Marrow Transplant With Abatacept for Non-Malignant Diseases January 2014 September 19, 2019
NCT00176852 Completed Phase 2/Phase 3 Stem Cell Transplant for Hemoglobinopathy June 2002 January 2020
NCT04844177 Not yet recruiting Phase 2 Total Lymphoid Irradiation Pre-HSCT in Severe Congenital Neutropenia April 14, 2021 April 2026
NCT02179359 Recruiting N/A Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies September 2, 2014 August 2025
NCT02720679 Recruiting Investigation of the Genetics of Hematologic Diseases June 17, 2016 July 2050
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
NCT01319851 Terminated N/A Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation September 2010 September 2013
Disase is a (Disease Ontology)
DOID:1227
Cross Reference ID (Disease Ontology)
GARD:13592
Cross Reference ID (Disease Ontology)
ICD10CM:D70
Cross Reference ID (Disease Ontology)
MIM:PS202700
Cross Reference ID (Disease Ontology)
ORDO:42738
OrphaNumber from OrphaNet (Orphanet)
42738