DDrare: Database of Drug Development for Rare Diseases

102. ルビンシュタイン・テイビ症候群
［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］

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.

Drug = Culture of lymphoblastoid line from blood sample; Depakine; Other: Functional involvement of identified epigenetic alterations; 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; 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.; Sodium valproate; Valproate

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	EUCTR2011-003784-30-FR (EUCTR)		13/12/2011	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	CHU de bordeaux	NULL	NA			Female: yes Male: yes		Phase 2	France

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EUCTR2011-003784-30-FR
(EUCTR)

13/12/2011

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

CHU de bordeaux

NULL

Female: yes
Male: yes

Phase 2

France