65. 原発性免疫不全症候群
［臨床試験数：413，薬物数：581（DrugBank：97），標的遺伝子数：68，標的パスウェイ数：202］
Searched query = "Primary immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "Telangiectasia ataxia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "IMyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "CC1r deficiency", "CC1s deficiency", "CC2 deficiency", "CC3 deficiency", "CC4 deficiency", "CC5 deficiency", "CC6 deficiency", "CC7 deficiency", "CC8 deficiency", "CC9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT04561115 (ClinicalTrials.gov) | October 6, 2020 | 10/9/2020 | A Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Immune Globulin (Human) 10% (Gamunex-C) PEG Process (IVIG-PEG) Compared to Gamunex-C in Participants With Primary Humoral Immunodeficiency | A Phase 3, Multicenter, Open-label, Single-sequence, Cross-over, Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of IVIG-PEG Compared to Gamunex-C in Subjects With Primary Humoral Immunodeficiency | Primary Immunodeficiency | Biological: Gamunex-C;Biological: IVIG-PEG | Grifols Therapeutics LLC | NULL | Recruiting | 18 Years | 75 Years | All | 25 | Phase 3 | United States |
| 2 | NCT03765632 (ClinicalTrials.gov) | January 3, 2018 | 8/8/2018 | Efficacy and Safety of the Cryopreserved Formulation of OTL-101 in Subjects With ADA-SCID | Efficacy and Safety of a Cryopreserved Formulation of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1a Short Form (EFS) Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency (SCID) Due to Adenosine Deaminase Deficiency | Severe Combined Immunodeficiency Due to ADA Deficiency | Genetic: Infusion of autologous cryopreserved EFS-ADA LV CD34+ cells (OTL-101);Drug: Busulfan;Drug: Peg-Ada | Great Ormond Street Hospital for Children NHS Foundation Trust | Orchard Therapeutics | Recruiting | N/A | 17 Years | All | 10 | Phase 1;Phase 2 | United Kingdom |
| 3 | NCT02999984 (ClinicalTrials.gov) | December 16, 2016 | 19/12/2016 | Efficacy and Safety of the Cryopreserved Formulation of OTL-101 in Subjects With ADA-SCID | Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With EFS Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency Due to ADA Deficiency | Severe Combined Immunodeficiency Due to ADA Deficiency | Genetic: Infusion of autologous cryopreserved EFS-ADA LV CD34+ cells (OTL-101);Drug: busulfan;Drug: PEG-ADA ERT | Orchard Therapeutics | California Institute for Regenerative Medicine (CIRM);University of California, Los Angeles | Completed | N/A | 17 Years | All | 10 | Phase 1;Phase 2 | United States |
| 4 | NCT01852071 (ClinicalTrials.gov) | August 2, 2013 | 7/5/2013 | Autologous CD34+ Hematopoietic Stem Cells Transduced ex Vivo With EFS Lentiviral Vector Encoding for the Human ADA Gene | Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) | ADA-SCID | Genetic: Infusion of autologous EFS-ADA LV CD34+ (OTL-101);Drug: busulfan;Drug: PEG-ADA ERT | Orchard Therapeutics | National Institute of Allergy and Infectious Diseases (NIAID);National Human Genome Research Institute (NHGRI);National Heart, Lung, and Blood Institute (NHLBI);University of California, Los Angeles | Completed | 1 Month | 17 Years | All | 20 | Phase 1;Phase 2 | United States |
| 5 | NCT01380990 (ClinicalTrials.gov) | November 15, 2012 | 23/6/2011 | Lentiviral (LV) Gene Therapy for Adenosine Deaminase (ADA) Deficiency | Phase I/II, Historical Controlled, Open-label, Non-randomised, Single-centre Trial to Assess the Safety and Efficacy of EF1aS-ADA Lentiviral Vector Mediated Gene Modification of Autologous CD34+ Cells From ADA-deficient Individuals | Adenosine Deaminase Deficiency;Severe Combined Immunodeficiencies (SCID) | Genetic: Infusion of autologous EFS-ADA LV CD34+ cells;Other: Haematopoietic Stem Cell Transplantation (HSCT);Drug: Busulfan;Drug: Peg-Ada | Great Ormond Street Hospital for Children NHS Foundation Trust | Orchard Therapeutics | Completed | N/A | 15 Years | All | 36 | Phase 1;Phase 2 | United Kingdom |
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT00794508 (ClinicalTrials.gov) | November 2008 | 19/11/2008 | MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID | MND-ADA Transduction of CD34+ Cells From the Bone Marrow Of Children With Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID): Effect of Discontinuation of PEG-ADA and Marrow Cytoreduction With Busulfan | Severe Combined Immunodeficiency | Biological: ADA gene transfer | Donald B. Kohn, M.D. | FDA Office of Orphan Products Development;National Institutes of Health (NIH) | Completed | 1 Month | 18 Years | All | 10 | Phase 2 | United States |
| 7 | NCT00004695 (ClinicalTrials.gov) | September 1997 | 24/2/2000 | Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency | Common Variable Immunodeficiency | Drug: PEG-interleukin-2 | Mount Sinai School of Medicine | NULL | Completed | 2 Years | N/A | Both | 48 | N/A | NULL |