164. 眼皮膚白皮症 Oculocutaneous albinism Clinical trials / Disease details


臨床試験数 : 15 薬物数 : 57 - (DrugBank : 34) / 標的遺伝子数 : 35 - 標的パスウェイ数 : 139

  
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PhaseCountries
1NCT04193592
(ClinicalTrials.gov)
December 1, 20196/11/2019Efficacy and Safety of Pirfenidone Treatment in HPS-ILDPirfenidone in the Treatment of Hermansky Pudlak Syndrome (HPS) - Related Interstitial Lung Disease (ILD)Hermansky Pudlak Syndrome;Interstitial Lung DiseaseDrug: PirfenidoneJesse RomanGenentech, Inc.Not yet recruiting18 Years75 YearsAll50Phase 2United States;Puerto Rico
2NCT02200263
(ClinicalTrials.gov)
November 201423/7/2014The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With AlbinismA Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA)Ocular Albinism (OA);Oculocutaneous Albinism (OCA)Dietary Supplement: Lutein plus Zeaxanthin;Dietary Supplement: PlaceboJohns Hopkins UniversityClark Charitable Foundation Inc.Completed12 YearsN/AAll10N/AUnited States
3NCT01917708
(ClinicalTrials.gov)
January 201424/7/2013Bone Marrow Transplant With Abatacept for Non-Malignant DiseasesAbatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant DiseasesHurler Syndrome;Fanconi Anemia;Glanzmann Thrombasthenia;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Severe Congenital Neutropenia;Leukocyte Adhesion Deficiency;Shwachman-Diamond Syndrome;Diamond-Blackfan Anemia;Dyskeratosis-congenita;Chediak-Higashi Syndrome;Severe Aplastic Anemia;Thalassemia Major;Hemophagocytic Lymphohistiocytosis;Sickle Cell DiseaseDrug: AbataceptEmory UniversityNULLCompletedN/A21 YearsAll10Phase 1United States
4NCT01838655
(ClinicalTrials.gov)
April 16, 201320/4/2013Nitisinone for Type 1B Oculocutaneous AlbinismA Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1BAlbinism;Vision LossDrug: NitisinoneNational Eye Institute (NEI)National Human Genome Research Institute (NHGRI)Completed18 YearsN/AAll5Phase 1/Phase 2United States
5NCT01821781
(ClinicalTrials.gov)
March 201319/3/2013Immune Disorder HSCT ProtocolA Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory RegimeImmune Deficiency Disorders;Severe Combined Immunodeficiency;Chronic Granulomatous Disease;X-linked Agammaglobulinemia;Wiskott-Aldrich Syndrome;Hyper-IgM;DiGeorge Syndrome;Chediak-Higashi Syndrome;Common Variable Immune Deficiency;Immune Dysregulatory Disorders;Hemophagocytic Lymphohistiocytosis;IPEX;Autoimmune Lymphoproliferative Syndrome;X-linked Lymphoproliferative SyndromeDrug: Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalanWashington University School of MedicineNULLRecruitingN/A21 YearsAll20Phase 2United States
6NCT01663935
(ClinicalTrials.gov)
October 17, 20129/8/2012Vision Response to Dopamine ReplacementInterventional Study of Levodopa Replacement on Retinal Function in Oculocutaneous AlbinismAlbinism;Oculocutaneous AlbinismDrug: Levodopa/carbidopaUniversity of Wisconsin, MadisonNULLTerminated3 YearsN/AAll20Phase 2United States
7NCT01652092
(ClinicalTrials.gov)
September 4, 201225/7/2012Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesAllogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesSCID;Omenn's Syndrome;Reticular Dysgenesis;Wiskott-Aldrich Syndrome;Bare Lymphocyte Syndrome;Common Variable Immunodeficiency;Chronic Granulomatous Disease;CD40 Ligand Deficiency;Hyper IgM Syndrome;X-linked Lymphoproliferative Disease;Hemophagocytic Lymphohistiocytosis;Griscelli Syndrome;Chediak-Higashi Syndrome;Langerhan's Cell HistiocytosisDrug: Alemtuzumab 0.3 mg;Drug: Cyclophosphamide;Drug: Busulfan;Biological: Stem Cell Transplantation;Drug: Fludarabine phosphate 40 mg;Drug: Melphalan;Drug: Alemtuzumab 0.2 mg;Drug: Fludarabine phosphate 30 mg;Drug: MESNAMasonic Cancer Center, University of MinnesotaNULLRecruitingN/A50 YearsAll30N/AUnited States
8NCT01319851
(ClinicalTrials.gov)
September 201015/9/2010Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationAlefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot StudyThalassemia;Sickle Cell Disease;Glanzmann Thrombasthenia;Wiskott-Aldrich Syndrome;Chronic-granulomatous Disease;Severe Congenital Neutropenia;Leukocyte Adhesion Deficiency;Schwachman-Diamond Syndrome;Diamond-Blackfan Anemia;Fanconi Anemia;Dyskeratosis-congenita;Chediak-Higashi Syndrome;Severe Aplastic AnemiaDrug: AlefaceptEmory UniversityChildren's Healthcare of AtlantaTerminatedN/A21 YearsAll3N/AUnited States
9NCT00514982
(ClinicalTrials.gov)
August 7, 20079/8/2007Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeAn Observational Study of the Immunopathogenesis of and Response to Step-Up Inflammatory Bowel Disease Therapy for Hermansky-Pudlak Syndrome-Associated ColitisHermanski-Pudlak Syndrome;Colitis;Cytokines;Lymphocytes;Drug EvaluationDrug: Mesalamine;Drug: Infliximab;Drug: Corticosteroids;Drug: 6-Mercaptopurine;Drug: Tacrolimus;Drug: AdalimumabNational Institute of Allergy and Infectious Diseases (NIAID)NULLWithdrawn18 YearsN/AAll0Phase 2United States
10NCT00467831
(ClinicalTrials.gov)
April 200728/4/2007Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromePilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeHermansky-Pudlak Syndrome (HPS);Pulmonary Fibrosis;Oculocutaneous Albinism;Platelet Storage Pool Deficiency;Metabolic DiseaseDrug: Losartan;Drug: Zileuton;Drug: N-Acetylcysteine;Drug: Pravastatin;Drug: ErythromycinNational Human Genome Research Institute (NHGRI)NULLTerminated18 Years70 YearsAll3Phase 1/Phase 2United States
11NCT00001596
(ClinicalTrials.gov)
September 20053/11/1999Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeTherapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeAlbinism;Inborn Errors of Metabolism;Oculocutaneous Albinism;Platelet Storage Pool Deficiency;Pulmonary FibrosisDrug: Pirfenidone;Drug: PlaceboWilliam Gahl, M.D.National Human Genome Research Institute (NHGRI)Completed18 YearsN/AAll35Phase 2United States;Puerto Rico
12NCT00176865
(ClinicalTrials.gov)
August 200212/9/2005Stem Cell Transplant for Immunologic or Histiocytic DisordersAllogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed ChimerismHemophagocytic Lymphohistiocytosis;X-Linked Lymphoproliferative Disorders;Chediak-Higashi Syndrome;Griscelli Syndrome;Immunologic Deficiency Syndromes;Langerhans-Cell HistiocytosisProcedure: Stem Cell Transplant;Drug: Fludarabine;Drug: Melphalan;Drug: Anti-thymocyte globulin (ATG);Drug: Campath 1H;Drug: Cyclosporin A;Drug: Mycophenolate mofetil;Drug: Intravenous immunoglobulin (IVIG)Masonic Cancer Center, University of MinnesotaNULLCompletedN/A35 YearsAll19Phase 2United States
13NCT00176826
(ClinicalTrials.gov)
September 200012/9/2005T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic DisordersIn-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic DisordersHemophagocytic Lymphohistiocytosis;X-Linked Lymphoproliferative Disorders;Chediak-Higashi Syndrome;Griscelli Syndrome;Immunologic Diseases;Langerhans-Cell Histiocytosis;Hematologic DiseasesProcedure: Stem Cell Transplant;Drug: Myeloablative conditioning regimenMasonic Cancer Center, University of MinnesotaNULLUnknown statusN/A55 YearsAll22Phase 2/Phase 3United States
14NCT00006056
(ClinicalTrials.gov)
March 20005/7/2000Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic DisordersChediak-Higashi Syndrome;Graft Versus Host Disease;X-Linked Lymphoproliferative Syndrome;Familial Erythrophagocytic Lymphohistiocytosis;Hemophagocytic Lymphohistiocytosis;Virus-Associated Hemophagocytic SyndromeDrug: anti-thymocyte globulin;Drug: busulfan;Drug: cyclophosphamide;Drug: cyclosporine;Drug: etoposide;Drug: filgrastim;Drug: methotrexate;Procedure: allogeneic hematopoietic stem cell transplantationFairview University Medical CenterNULLActive, not recruitingN/A55 YearsBoth40N/AUnited States
15NCT00006054
(ClinicalTrials.gov)
March 20005/7/2000Allogeneic Bone Marrow Transplantation in Patients With Primary ImmunodeficienciesImmunologic Deficiency Syndromes;Chediak-Higashi Syndrome;Common Variable Immunodeficiency;Graft Versus Host Disease;X-Linked Lymphoproliferative Syndrome;Familial Erythrophagocytic Lymphohistiocytosis;Hemophagocytic Lymphohistiocytosis;X-linked Agammaglobulinemia;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;X-linked Hyper IgM Syndrome;Severe Combined Immunodeficiency;Leukocyte Adhesion Deficiency Syndrome;Virus-Associated Hemophagocytic SyndromeDrug: anti-thymocyte globulin;Drug: busulfan;Drug: cyclophosphamide;Drug: cyclosporine;Drug: etoposide;Drug: methotrexate;Drug: methylprednisolone;Drug: prednisone;Procedure: Allogeneic Bone Marrow TransplantationFairview University Medical CenterNULLTerminatedN/A35 YearsBothN/AUnited States