chronic granulomatous disease

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Information
Disease name
chronic granulomatous disease
Disease ID
DOID:3265
Description
"A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed." [url:http\://en.wikipedia.org/wiki/Chronic_granulomatous_disease, url:https\://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/, url:https\://rarediseases.org/rare-diseases/chronic-granulomatous-disease/, url:https\://www.ncbi.nlm.nih.gov/books/NBK99496/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03333486 Active, not recruiting Phase 2 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer December 7, 2017 August 28, 2024
NCT02609932 Completed Phase 1 Effect of IFN-γ on Innate Immune Cells July 2016 February 2019
NCT00001476 Completed Phase 1 Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up June 1, 1995 December 13, 2010
NCT00006417 Completed Phase 2 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease October 2000 November 2004
NCT00023192 Completed Phase 3 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care August 2001 June 2004
NCT03513328 Completed Phase 1/Phase 2 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation June 15, 2018 February 19, 2023
NCT00001515 Completed Phase 1 Diagnostic Effectiveness of Virtual Bronchoscopy December 1995 November 2001
NCT03548818 Completed Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease May 16, 2018 July 15, 2020
NCT00368446 Completed Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease October 17, 2006
NCT00001765 Completed Phase 1 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease April 1998 February 2005
NCT00578643 Completed Phase 2 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease March 2004 November 24, 2017
NCT00001317 Completed Phase 4 A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood May 1992 July 2001
NCT01917708 Completed Phase 1 Bone Marrow Transplant With Abatacept for Non-Malignant Diseases January 2014 September 19, 2019
NCT01998633 Completed Phase 2 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) December 2013 December 2016
NCT02116764 Completed Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 June 11, 2014 June 2, 2022
NCT00005933 Completed Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders June 2000 July 2005
NCT00799071 Completed Phase 2 Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD) February 2009 August 2010
NCT00927134 Completed Phase 1/Phase 2 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children June 2004 September 2011
NCT04136028 Completed Early Phase 1 IL-1 Receptor Inhibitor for Granulomatous Complications in Patients With Chronic Granulomatous Disease September 25, 2015 January 2020
NCT06253507 Enrolling by invitation Phase 1/Phase 2 pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD) June 23, 2024 March 31, 2027
NCT03655223 Enrolling by invitation Early Check: Expanded Screening in Newborns October 15, 2018 December 31, 2025
NCT05104723 Enrolling by invitation Phase 1/Phase 2 Safety and Efficacy of Tofacitinib for Chronic Granulomatous Disease With Inflammatory Complications August 12, 2022 January 1, 2027
NCT03983837 Enrolling by invitation Phase 2 Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients With Chronic Granulomatous Disease June 23, 2021 June 23, 2026
NCT01652092 Recruiting N/A Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies September 4, 2012 December 2026
NCT03910452 Recruiting Early Phase 1 Haploidentical Transplant for People With Chronic Granulomatous Disease (CGD) Using Alemtuzumab, Busulfan and TBI With Post-Transplant Cyclophosphamide October 28, 2019 June 15, 2034
NCT05189925 Recruiting Phase 1 NADPH Oxidase Correction in mRNA-transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD) July 22, 2022 July 1, 2026
NCT06162936 Recruiting Neutrophil Oxidative Burst in Early and Late Onset Pediatric Inflammatory Bowel Disease November 1, 2023 February 2025
NCT05463133 Recruiting Phase 1/Phase 2 Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease (CGD) With an Alemtuzumab, Busulfan and TBI-based Conditioning Regimen Combined With Cytokine (IL-6, +/- IFN-gamma) Antagonists July 8, 2022 December 31, 2032
NCT01821781 Recruiting Phase 2 Immune Disorder HSCT Protocol March 2013 March 2027
NCT02108028 Recruiting Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults With Cancer April 3, 2014 December 31, 2024
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
NCT05600907 Recruiting Early Phase 1 Study to Assess the Use of JSP191 in Matched Unrelated Donor Transplantation for Chronic Granulomatous Disease (CGD) January 2, 2023 November 30, 2036
NCT02282904 Terminated Phase 1/Phase 2 Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide October 23, 2014 December 10, 2019
NCT00006054 Terminated N/A Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies March 2000 December 2002
NCT00325078 Terminated Phase 1/Phase 2 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease May 2006 June 2012
NCT00394316 Terminated Early Phase 1 Gene Therapy for Chronic Granulomatous Disease October 30, 2006 April 8, 2014
NCT02512679 Terminated Phase 2 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells February 2007 February 2014
NCT02926963 Terminated N/A Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease. October 2010 June 2017
NCT03080480 Terminated Phase 1/Phase 2 Pioglitazone Therapy for Chronic Granulomatous Disease September 1, 2017 October 20, 2019
NCT05915897 Terminated Whole Blood Biospecimen Collection for Subjects With Chronic Granulomatous Disease (CGD) May 23, 2023 March 25, 2024
NCT03547830 Unknown status Phase 2 Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients April 13, 2019 January 1, 2023
NCT00778882 Unknown status Phase 1/Phase 2 Gene Therapy for Chronic Granulomatous Disease in Korea January 2007 October 2022
NCT01338675 Unknown status Phase 1/Phase 2 Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD) January 2011 December 2013
NCT03645486 Unknown status N/A Lentiviral Gene Therapy for CGD July 1, 2018 December 31, 2021
NCT03278912 Withdrawn Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations September 8, 2023 September 8, 2023
Disase is a (Disease Ontology)
DOID:3262
Cross Reference ID (Disease Ontology)
GARD:6100
Cross Reference ID (Disease Ontology)
ICD10CM:D71
Cross Reference ID (Disease Ontology)
MESH:D006105
Cross Reference ID (Disease Ontology)
MIM:PS306400
Cross Reference ID (Disease Ontology)
NCI:C26788
Cross Reference ID (Disease Ontology)
ORDO:379
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:11210002
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0018203
Exact Synonym (Disease Ontology)
Bridges-Good syndrome
Exact Synonym (Disease Ontology)
CGD
Exact Synonym (Disease Ontology)
Congenital dysphagocytosis
Exact Synonym (Disease Ontology)
Quie syndrome
OrphaNumber from OrphaNet (Orphanet)
379