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

  
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1NCT04122742
(ClinicalTrials.gov)
October 8, 20199/10/2019Diagnosis 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 SyndromeProcedure: 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 sampleUniversity Hospital, BordeauxNULLRecruiting6 YearsN/AAll154France
2NCT01619644
(ClinicalTrials.gov)
April 201212/6/2012Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic TrialRubinstein-Taybi Syndrome: Functional Imaging and Therapeutic TrialRubinstein-Taybi SyndromeDrug: sodium valproate;Drug: PlaceboUniversity Hospital, BordeauxFondation Syndrome de Rubinstein-TaybiCompleted6 Years21 YearsBoth41Phase 2France
3EUCTR2011-003784-30-FR
(EUCTR)
13/12/2011Rubinstein-Taybi syndrome: approach to functional imaging and therapeutic trialRubinstein-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: DepakineCHU de bordeauxNULLNAFemale: yes
Male: yes
Phase 2France