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 : 5 - (DrugBank : 1) / 標的遺伝子数 : 7 - 標的パスウェイ数 : 17

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	NCT05696912 (ClinicalTrials.gov)	January 30, 2023	7/12/2022	Functional Tests to Resolve Unsolved Rare Diseases. Rares.	Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)	Intellectual Disability;Rubinstein-Taybi Syndrome;Cystic Fibrosis;Congenital Heart Defect;Periventricular Nodular Heterotopia;Neurodegeneration With Brain Iron Accumulation (NBIA);Albinism	Genetic: Ex-vivo approach concerning 25 patients;Genetic: In-vitro approach concerning 25 patients	University Hospital, Bordeaux	NULL	Recruiting	N/A	N/A	All	50	N/A	France
2	NCT01619644 (ClinicalTrials.gov)	April 2012	12/6/2012	Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial	Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial	Rubinstein-Taybi Syndrome	Drug: sodium valproate;Drug: Placebo	University Hospital, Bordeaux	Fondation Syndrome de Rubinstein-Taybi	Completed	6 Years	21 Years	Both	41	Phase 2	France
3	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