318. シトリン欠損症 Citrin deficiency Clinical trials / Disease details


臨床試験数 : 2 薬物数 : 2 - (DrugBank : 2) / 標的遺伝子数 : 0 - 標的パスウェイ数 : 0

  
No.TrialIDDate_
enrollment
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Public_titleScientific_titleConditionInterventionPrimary_
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agemin
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PhaseCountries
1ChiCTR2000038114
2020-09-152020-09-11Molecular Diagnostic Study and Clinical Management of citrin deficiencyMolecular Diagnostic Study and Clinical Management of citrin deficiency Citrin deficiencyGold Standard:Sanger sequncing;Index test:Next-Generation Sequncing;Beijing Friendship Hospital Affiliated to Capital Medical UniversityNULLRecruitingBothTarget condition:60;Difficult condition:0N/AChina
2JPRN-jRCTs041190017
31/07/201210/04/2019Confirmation of effects of medium chain triglyceride therapy for citrin deficiencyConfirmation of effects of medium chain triglyceride therapy for citrin deficiency, especially in patients with symptomatic post neonatal intrahepatic cholestasis and that with adult-onset type II citrullinemia citrin deficiency
Endocrinology and Metabolism, Pediatrics;D006111
Medium chain triglyceride 5-15ml 3 times a dayMitsui TetsuoNULLRecruitingNot applicable80ageBoth50Phase 2Japan