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 | NCT04370795 (ClinicalTrials.gov) | December 17, 2020 | 30/4/2020 | Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus | Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus | Severe Combined Immunodeficiency (SCID) | Drug: Sirolimus;Drug: Busulfan;Drug: Horse -Anti-thymocyte;Drug: G-CSF;Radiation: Total Body Irradiation (TBI) | National Institute of Allergy and Infectious Diseases (NIAID) | NULL | Enrolling by invitation | 3 Years | 40 Years | All | 30 | Phase 1;Phase 2 | United States |
| 2 | NCT04558736 (ClinicalTrials.gov) | November 2020 | 9/9/2020 | Haploidentical HCT for Severe Aplastic Anemia | Haploidentical Donor Hematopoietic Cell Transplantation for Patients With Severe Aplastic Anemia | Aplastic Anemia;Bone Marrow Failure Syndrome;Dyskeratosis Congenita | Drug: Anti-Thymocyte Globulin (Rabbit);Drug: Fludarabine;Drug: Cyclophosphamide;Drug: Mesna;Drug: G-CSF;Radiation: Total Lymphoid Irradiation (TLI);Device: CliniMACS;Biological: HPC, A Infusion;Biological: CD45RA-depleted DLI | St. Jude Children's Research Hospital | NULL | Recruiting | N/A | 21 Years | All | 21 | Phase 2 | United States |
| 3 | NCT03547830 (ClinicalTrials.gov) | April 13, 2019 | 24/5/2018 | Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients | A Clinical Trial of Plerixafor With G-CSF as Additional Agents in Conditioning Regimen for Prevention of Graft Failure in Patients With Chronic Granulomatous Disease | Chronic Granulomatous Disease | Drug: Plerixafor;Drug: Gcsf | Federal Research Institute of Pediatric Hematology, Oncology and Immunology | NULL | Recruiting | 1 Month | 24 Years | All | 17 | Phase 2 | Russian Federation |
| 4 | EUCTR2018-003842-18-IT (EUCTR) | 08/01/2019 | 19/11/2018 | Gene therapy study using a frozen formulation of OTL-103 in patients with Wiskott-Aldrich Syndrome (WAS) | A Single Arm, Open Label Clinical Study of Haematopoietic Stem Cell Gene Therapy with Cryopreserved Autologous CD34+ Cells Transduced with Lentiviral Vector encoding WAS cDNA in Subjects with Wiskott-Aldrich Syndrome (WAS). - Clinical study using cryopreserved OTL-103 for treatment of WAS. | Wiskott-Aldrich Syndrome MedDRA version: 20.0;Level: PT;Classification code 10061598;Term: Immunodeficiency;System Organ Class: 10021428 - Immune system disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Product Name: OTL-103 Dispersion for Infusion Product Code: OTL-103 INN or Proposed INN: Other hematological Agents Other descriptive name: Autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with lentiviral vector that encodes for the human Wiskott Aldrich Syndrome (WAS) cDNA sequence Trade Name: Busilvex INN or Proposed INN: BUSULFAN Other descriptive name: NA Trade Name: Fludarabina Accord INN or Proposed INN: FLUDARABINE Other descriptive name: NA Trade Name: MabThera INN or Proposed INN: RITUXIMAB Other descriptive name: NA Trade Name: Mozobil, INN or Proposed INN: plerixafor Other descriptive name: PLERIXAFOR Trade Name: MYELOSTIM Product Name: granulocyte colony stimulating factor (G-CSF) INN or Proposed INN: | Orchard Therapeutics Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 6 | Phase 3 | Italy | ||
| 5 | NCT03019809 (ClinicalTrials.gov) | June 2016 | 11/1/2017 | A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients | A Trial of Plerixafor With G-CSF as Additional Agents in Conditioning Regimen for Prevention of Graft Failure After Transplantation With TCR Alpha/Beta Grafts Depletion in Patients With Wiskott-Aldrich Syndrome. | Wiskott-Aldrich Syndrome;Hematopoietic Stem Cell Transplantation;Graft Failure | Biological: G-CSF for Conditioning before HSCT.;Biological: Plerixafor for Conditioning before HSCT. | Federal Research Institute of Pediatric Hematology, Oncology and Immunology | NULL | Unknown status | 1 Month | 19 Years | All | 30 | Phase 2 | Russian Federation |
| 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 | NCT03055247 (ClinicalTrials.gov) | November 2015 | 21/7/2016 | Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD | A Multicentric, Exploratory, Non-randomised, Non-controlled, Prospective, Open-label Phase II Study Evaluating Safety and Efficacy of IBU, G-CSF and Plerixafor as Stem Cell Mobilization Regimen in Patients Affected by X-CGD | Chronic Granulomatous Disease X-linked (X-CGD) | Drug: Ibuprofen;Drug: Myelostim;Drug: Mozobil | IRCCS San Raffaele | Fondazione Telethon | Recruiting | 18 Years | 45 Years | Male | 3 | Phase 2 | Italy |
| 7 | EUCTR2015-002356-27-IT (EUCTR) | 16/10/2015 | 29/07/2015 | Evaluation of safety and efficacy of the combination of Ibuprofen (IBU), G-CSF and Plerixafor as a stem cell mobilization regimen in patients affected by XCGD | A multicentric, exploratory, non-randomised, non-controlled, prospective, open-label phase II, study evaluating safety and efficacy of IBU, G-CSF and Plerixafor as a stem cell mobilization regimen in patients affected by X-CGD. | X-linked chronic granulomatous disease MedDRA version: 18.0;Level: PT;Classification code 10008906;Term: Chronic granulomatous disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Product Name: Ibuprofen INN or Proposed INN: IBUPROFEN Other descriptive name: NA Trade Name: MYELOSTIM 34 milions UI/ml, powder and solvent for solution for injection or infusion Product Name: MYELOSTIM 34 milions UI/ml - powder and solvent for solution for injection/infusion INN or Proposed INN: LENOGRASTIM Trade Name: Mozobil 20mg/mL vial (injectable solution for subcutaneous use) Product Name: Mozobil 20mg/mL vial (injectable solution, subcutaneous use) INN or Proposed INN: Plerixafor Other descriptive name: Plerixafor Product Name: Pantoprazolo 20 mg gastro-resistant tablets INN or Proposed INN: Pantoprazole Other descriptive name: PANTOPRAZOLE | Ospedale San Raffaele | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 3 | Phase 2 | Italy | ||
| 8 | NCT02231879 (ClinicalTrials.gov) | October 14, 2014 | 3/9/2014 | Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome | A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. | Myelokathexis;Infections;Neutropenia;Warts;Hypogammaglobulinemia | Drug: Plerixafor;Drug: G-CSF | National Institute of Allergy and Infectious Diseases (NIAID) | NULL | Active, not recruiting | 10 Years | 75 Years | All | 19 | Phase 2;Phase 3 | United States |
| 9 | EUCTR2011-001118-32-SE (EUCTR) | 03/02/2012 | 06/12/2011 | Twelve-month study on the immunogenicity (i.e. the ability of the study medication to provoke an immune response), safety and efficacy of the study medication Zarzio®/Filgrastim HEXAL® in patients with severe chronic neutropenia | Twelve-month study on the immunogenicity, safety, and efficacy of Zarzio®/Filgrastim HEXAL® in patients with severe chronic neutropenia | Severe chronic neutropenia (i.e. congenital neutropenia, cyclic neutropenia and chronic idiopathic neutropenia) MedDRA version: 18.0;Level: PT;Classification code 10051645;Term: Idiopathic neutropenia;System Organ Class: 10005329 - Blood and lymphatic system disorders MedDRA version: 18.0;Classification code 10053176;Term: Cyclic neutropenia;Level: LLT;Classification code 10069819;Term: Congenital neutropenia;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Blood and lymphatic diseases [C15] | Trade Name: Zarzio INN or Proposed INN: FILGRASTIM Trade Name: Zarzio INN or Proposed INN: FILGRASTIM | Sandoz GmbH | NULL | Not Recruiting | Female: yes Male: yes | 40 | Phase 4 | Germany;Sweden | ||
| 10 | EUCTR2011-001118-32-DE (EUCTR) | 25/05/2011 | 27/04/2011 | Twelve-month study on the immunogenicity (i.e. the ability of the study medication to provoke an immune response), safety and efficacy of the study medication Zarzio®/Filgrastim HEXAL® in patients with severe chronic neutropenia | Twelve-month study on the immunogenicity, safety, and efficacy of Zarzio®/Filgrastim HEXAL® in patients with severe chronic neutropenia | Severe chronic neutropenia (i.e. congenital neutropenia, cyclic neutropenia and chronic idiopathic neutropenia) MedDRA version: 14.1;Level: PT;Classification code 10051645;Term: Idiopathic neutropenia;System Organ Class: 10005329 - Blood and lymphatic system disorders MedDRA version: 14.1;Level: LLT;Classification code 10069819;Term: Congenital neutropenia;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 14.1;Classification code 10053176;Term: Cyclic neutropenia;System Organ Class: 10005329 - Blood and lymphatic system disorders;Therapeutic area: Diseases [C] - Blood and lymphatic diseases [C15] | Trade Name: Filgrastim Hexal INN or Proposed INN: FILGRASTIM Trade Name: Filgrastim Hexal INN or Proposed INN: FILGRASTIM Product Name: EP2006 (Filgrastim) Product Code: EP2006 INN or Proposed INN: FILGRASTIM | Sandoz GmbH | NULL | Not Recruiting | Female: yes Male: yes | 40 | Germany;Sweden | |||
| 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 |
| 11 | NCT01182675 (ClinicalTrials.gov) | August 2010 | 9/8/2010 | Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim | Hematopoietic Stem Cell Transplantation for Children With Severe Combined Immunodeficiency Disease Utilizing Alemtuzumab and Mobilization With Plerixafor & Filgrastim | Severe Combined Immunodeficiency | Drug: Transplant Conditioning with Mobilization Only;Drug: Transplant Conditioning with Mobilization and Alemtuzumab | University of California, San Francisco | NULL | Terminated | N/A | 3 Years | All | 7 | Phase 2 | United States |
| 12 | NCT00152100 (ClinicalTrials.gov) | February 2004 | 7/9/2005 | Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome | Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome | Severe Combined Immunodeficiency | Procedure: Stem cell transplant;Drug: Filgrastim, Alemtuzumab;Device: Miltenyi CliniMACS | St. Jude Children's Research Hospital | NULL | Completed | N/A | 2 Years | Both | 4 | Phase 1 | United States |
| 13 | NCT00006056 (ClinicalTrials.gov) | March 2000 | 5/7/2000 | Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders | Chediak-Higashi Syndrome;Graft Versus Host Disease;X-Linked Lymphoproliferative Syndrome;Familial Erythrophagocytic Lymphohistiocytosis;Hemophagocytic Lymphohistiocytosis;Virus-Associated Hemophagocytic Syndrome | Drug: anti-thymocyte globulin;Drug: busulfan;Drug: cyclophosphamide;Drug: cyclosporine;Drug: etoposide;Drug: filgrastim;Drug: methotrexate;Procedure: allogeneic hematopoietic stem cell transplantation | Fairview University Medical Center | NULL | Active, not recruiting | N/A | 55 Years | Both | 40 | N/A | United States | |
| 14 | NCT00004787 (ClinicalTrials.gov) | December 1994 | 24/2/2000 | Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes | Shwachman Syndrome;Fanconi's Anemia;Dyskeratosis Congenita;Thrombocytopenia | Drug: filgrastim | National Center for Research Resources (NCRR) | James Whitcomb Riley Hospital for Children | Completed | N/A | N/A | Both | 20 | Phase 2 | NULL |