Whole Exome Sequencing ( DrugBank: - )
3 diseases
| ID | Disease name (Link within this page) | Number of trials |
|---|---|---|
| 65 | Primary immunodeficiency | 1 |
| 120 | Hereditary dystonia | 1 |
| 149 | Hemiconvulsion hemiplegia epilepsy syndrome | 1 |
65. Primary immunodeficiency
Clinical trials : 500 / Drugs : 614 - (DrugBank : 119) / Drug target genes : 92 - Drug target pathways : 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. Hereditary dystonia
Clinical trials : 26 / Drugs : 19 - (DrugBank : 3) / Drug target genes : 2 - Drug target pathways : 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. Hemiconvulsion hemiplegia epilepsy syndrome
Clinical trials : 25 / Drugs : 35 - (DrugBank : 13) / Drug target genes : 16 - Drug target pathways : 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 |