Ex-vivo approach concerning 25 patients ( DrugBank: - )


2 diseases
告示番号疾患名(ページ内リンク)臨床試験数
102ルビンシュタイン・テイビ症候群1
299嚢胞性線維症1

102. ルビンシュタイン・テイビ症候群


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.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT05696912
(ClinicalTrials.gov)
January 30, 20237/12/2022Functional 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);AlbinismGenetic: Ex-vivo approach concerning 25 patients;Genetic: In-vitro approach concerning 25 patientsUniversity Hospital, BordeauxNULLRecruitingN/AN/AAll50N/AFrance

299. 嚢胞性線維症


臨床試験数 : 1,695 薬物数 : 1,527 - (DrugBank : 268) / 標的遺伝子数 : 111 - 標的パスウェイ数 : 174
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT05696912
(ClinicalTrials.gov)
January 30, 20237/12/2022Functional 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);AlbinismGenetic: Ex-vivo approach concerning 25 patients;Genetic: In-vitro approach concerning 25 patientsUniversity Hospital, BordeauxNULLRecruitingN/AN/AAll50N/AFrance