Whole Exome Sequencing ( DrugBank: - )
3 diseases
| 告示番号 | 疾患名（ページ内リンク） | 臨床試験数 |
|---|---|---|
| 65 | 原発性免疫不全症候群 | 1 |
| 120 | 遺伝性ジストニア | 1 |
| 149 | 片側痙攣・片麻痺・てんかん症候群 | 1 |
65. 原発性免疫不全症候群
臨床試験数 : 500 / 薬物数 : 614 - (DrugBank : 119) / 標的遺伝子数 : 92 - 標的パスウェイ数 : 217
| 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 | NCT03427593 (ClinicalTrials.gov) | March 13, 2018 | 15/1/2018 | Severe PID With Lymphoproliferation and Neutropenia | Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia | Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID) | Genetic: FACS analyses;Genetic: Target Sequencing by NGS ( Next-generation sequencing);Genetic: Whole Exome Sequencing | University Hospital, Strasbourg, France | NULL | Completed | 18 Years | N/A | All | 27 | N/A | France |
120. 遺伝性ジストニア
臨床試験数 : 26 / 薬物数 : 19 - (DrugBank : 3) / 標的遺伝子数 : 2 - 標的パスウェイ数 : 2
| 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 | NCT03857607 (ClinicalTrials.gov) | September 1, 2018 | 26/2/2019 | Natural History Study of ATP1A3-related Disease | Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project | ATP1A3-related Disease;Alternating Hemiplegia of Childhood;Rapid Onset Dystonia Parkinsonism;CAPOS | Genetic: Whole exome sequencing | Institute of Child Health | Great Ormond Street Hospital for Children NHS Foundation Trust;University College, London | Recruiting | 6 Months | 60 Years | All | 100 | United Kingdom |
149. 片側痙攣・片麻痺・てんかん症候群
臨床試験数 : 25 / 薬物数 : 35 - (DrugBank : 13) / 標的遺伝子数 : 16 - 標的パスウェイ数 : 22
| 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 | NCT03857607 (ClinicalTrials.gov) | September 1, 2018 | 26/2/2019 | Natural History Study of ATP1A3-related Disease | Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project | ATP1A3-related Disease;Alternating Hemiplegia of Childhood;Rapid Onset Dystonia Parkinsonism;CAPOS | Genetic: Whole exome sequencing | Institute of Child Health | Great Ormond Street Hospital for Children NHS Foundation Trust;University College, London | Recruiting | 6 Months | 60 Years | All | 100 | United Kingdom |