102. ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome Clinical trials / Disease details
臨床試験数 : 3 / 薬物数 : 8 - (DrugBank : 1) / 標的遺伝子数 : 7 - 標的パスウェイ数 : 17
| 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 | NCT04122742 (ClinicalTrials.gov) | October 8, 2019 | 9/10/2019 | Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. | Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. | Rubinstein-Taybi Syndrome | Procedure: skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included.;Other: Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy;Other: Histone acetylation profiles of cells of SRT patients with CREBBP mutations;Other: Functional involvement of identified epigenetic alterations;Biological: Culture of lymphoblastoid line from blood sample | University Hospital, Bordeaux | NULL | Recruiting | 6 Years | N/A | All | 154 | France | |
| 2 | NCT01619644 (ClinicalTrials.gov) | April 2012 | 12/6/2012 | Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial | Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial | Rubinstein-Taybi Syndrome | Drug: sodium valproate;Drug: Placebo | University Hospital, Bordeaux | Fondation Syndrome de Rubinstein-Taybi | Completed | 6 Years | 21 Years | Both | 41 | Phase 2 | France |
| 3 | EUCTR2011-003784-30-FR (EUCTR) | 13/12/2011 | Rubinstein-Taybi syndrome: approach to functional imaging and therapeutic trial | Rubinstein-Taybi syndrome: approach to functional imaging and therapeutic trial - RUBIVAL | Rubinstein-Taybi Syndrome MedDRA version: 14.1;Level: PT;Classification code 10039281;Term: Rubinstein-Taybi syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Depakine | CHU de bordeaux | NULL | NA | Female: yes Male: yes | Phase 2 | France |