CTRI/2021/02/031462尚未招募未知
Biomarkers for Inborn Errors of Metabolism AN INTERNATIONAL, MULTICENTER, OBSERVATIONAL, LONGITUDINAL STUDY
试验速览
- 阶段
- 未知
- 状态
- 尚未招募
- 发起方
- Centogene AG
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
入选标准
- •1. Informed consent is obtained from the participant or from their parent/legal guardian, before any study related procedures
- •2. The participant aged between 2 months old and 40 years old
- •3. The diagnosis of an Inborn Error of Metabolism is genetically confirmed
排除标准
- •1. Inability to provide informed consent
- •2. The participant is younger than 2 months old or older than 40 years old
- •3. The diagnosis of an Inborn Error of Metabolism (IEM) is not genetically confirmed
- •4. Previously enrolled in the study
研究者
相似试验
已完成
不适用
Biomarkers for Inborn Errors of MetabolismBiomarkerInborn Errors of MetabolismNCT04098198CENTOGENE GmbH Rostock462
招募中
不适用
Search of biomarkers for metabolic abnormalities of cholesterol by comprehensive analysis of cholesterol metabolites in human body fluidInborn error of metabolism (Niemann-Pick disease type C, 3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase (3beta-HSD) defficiency, lysosomal storage disorder, etc), hepatobiliary diaseses (steatosis, NAFLD, NASH, ALD, hepatitis B, hepatitis C, primary biliary cirrhosis, cholangitis, hepatic carcinoma)JPRN-UMIN000017343Department of Pharmaceutical Sciences, Tohoku university hospital60
招募中
不适用
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in KazakhstanMaple Syrup Urine DiseaseCitrullinemiaPropionic/Methylmalonic AcidemiasArgininosuccinic AciduriaCarbamoyl Phosphate Synthetase I DeficiencyNonketotic HyperglycinemiaHomocystinuriaArginase DeficiencyN-acetylglutamate Synthase DeficiencyIsovaleric AcidemiaShort/Branched Chain Acyl-CoA Dehydrogenase DeficiencyIsobutyryl-CoA Dehydrogenase DeficiencyGlutaric Acidemia Type I3-methylcrotonyl-CoA Carboxylase DeficiencyMalonyl-CoA Decarboxylase DeficiencyBeta-ketothiolase Deficiency3-hydroxy-3-methylglutaryl-CoA Lyase DeficiencyTyrosinemia3-methylglutaconyl-CoA Hydratase DeficiencyMedium-chain Acyl-CoA Dehydrogenase DeficiencyVery Long-chain Acyl-CoA Dehydrogenase DeficiencyLong-chain 3-hydroxyacyl-CoA Dehydrogenase DeficiencyGlutaric Acidemia Type IICarnitine Palmitoyltransferase I DeficiencyCarnitine Palmitoyltransferase II DeficiencyCarnitine-acylcarnitine Translocase DeficiencyPrimary Carnitine DeficiencyBiotinidase DeficiencyOrnithine Transcarbamylase DeficiencyNCT05910151West Kazakhstan Medical University2,250
Enrolling By Invitation
不适用
Genetic Diagnosis in Inborn Errors of MetabolismMetabolic DiseaseMitochondrial DiseasesEpilepsy in ChildrenEpilepsyLHONMotor Neuron DiseaseNCT06376279Region Stockholm1,000
已完成
不适用
Role of Metabolic Tests in Infants presenting with Developmental DelayCTRI/2021/04/032521Dr Rochelle Natasha Gomes53
