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 102. Rubinstein-Taybi syndrome
 [ 3 clinical trials,    4 drugs(DrugBank: 1 drug),    7 target genes / 17 target pathways

Searched query = "Rubinstein Taybi syndrome", "RSTS"
The queries were searched in Public_title, Scientific_title, and Condition of the data. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.

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No.TrialIDDate_
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1NCT04122742October 201922 October 2019Diagnosis 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 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, BordeauxNot recruiting10 YearsN/AAll4Phase 4France
2NCT01619644April 201230 March 2015Rubinstein-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-TaybiNot recruiting6 Years21 YearsBoth41Phase 2France
3EUCTR2011-003784-30-FR2 October 2017Rubinstein-Taybi syndrome: approach to functional imaging and therapeutic trialRubinstein-Taybi syndrome: approach to functional imaging and therapeutic trial - RUBIVALRubinstein-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 bordeauxNot AvailableFemale: yes
Male: yes
Phase 2France