102. ルビンシュタイン・テイビ症候群 ［臨床試験数：3，薬物数：4（DrugBank：1），標的遺伝子数：6，標的パスウェイ数：2］
Searched query = "Rubinstein-Taybi syndrome", "RSTS"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
|1||NCT04122742||October 2019||22 October 2019||Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP Variants.||Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP 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||Not recruiting||10 Years||N/A||All||4||Phase 4||France|
|2||NCT01619644||April 2012||30 March 2015||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||Not recruiting||6 Years||21 Years||Both||41||Phase 2||France|
|3||EUCTR2011-003784-30-FR||2 October 2017||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|
Pharmaceutical Form: Oral liquid
Pharmaceutical form of the placebo: Oral liquid
Route of administration of the placebo: Buccal use
|CHU de bordeaux||Not Available||Female: yes|