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| ID | Disease name (Link within this page) | Number of trials |
|---|---|---|
| 102 | Rubinstein-Taybi syndrome | 1 |
| 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 |