European patients' registry for urea cycle defects and organic acidaemias (E-IMD)andEuropean network and registry for homocystinurias and methylation defects (E-HOD)andEuropean post marketing registry for RAVICTI® (Glycerolphenylbutyrat), oral liquid, in cooperation with the European registry and network for intoxication type metabolic diseases – E-IMD (RRPE) - E-IMD/ EHOD/ RRPE

niversitätsklinikum Heidelberg0 个研究点目标入组 1,500 人开始时间: 2017年10月16日最近更新: 2024年8月19日

适应症

试验速览

暂无简介。

•General inclusion criteria:
•- Confirmed diagnosis of OAD, UCD, homocystinuria or methylation defects,
•- Written informed consent.
•Additional inclusion criteria for the participation in the RRPE post marketing registry part:
•- Confirmed diagnosis of UCD in whom treatment with RAVICTI® had been initiated
•- Confirmed diagnosis of UCD in whom treatment with nitrogen scavenging medication other than RAVICTI® had been initiated.
•- Children of mothers with confirmed diagnosis of UCD taken RAVICTI® during pregnancy or lactation period.

•- Metabolic derangement induced by other metabolic diseases not included in this study (e.g. fatty acid oxidation defects, lysinuric protein intolerance, gyrate atrophy, mitochondrial disorders, congenital lactic acidemia, D-2- and L-2-hydroxyglutaric aciduria, glutaric aciduria type II or III or cerebral folat carrier deficiency.
•- Other errors of cobalamin metabolism (e.g. acquired cobalamin (vitamin B12) deficiency due to malnutrition or failure of absorption or hyperhomocystinemia due to MTHFR gene polymorphism).

发起方

niversitätsklinikum Heidelberg