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.    (DrugBank: -)

1 disease
IDDisease name (Link within this page)Number of trials
102Rubinstein-Taybi syndrome1

102. Rubinstein-Taybi syndrome    [ 3 clinical trials,   8 drugs,   (DrugBank: 1 drug),   7 drug target genes,   17 drug target pathways]
Searched query = "Rubinstein-Taybi syndrome", "RSTS"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
1 / 3 trial found
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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