Clinical trial
Introduction of Tandem Mass Spectrometry (MS/MS) Technology in the Program of Selective Screening of Hereditary Metabolic Diseases in Kazakhstan
NCT05910151 is registered in ClinicalTrials.gov with West Kazakhstan Medical University as lead sponsor.
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Registry record
As filed in ClinicalTrials.gov.
- Title
- Introduction of Tandem Mass Spectrometry (MS/MS) Technology in the Program of Selective Screening of Hereditary Metabolic Diseases in Kazakhstan
- Lead sponsor
- West Kazakhstan Medical University
- Phase
- Observational
- Overall status
- Unknown status
- Start date
- October 3, 2022
- Completion date
- December 31, 2024
- Enrollment
- 2,250 (estimated)
- Sites
- 1
Conditions
As the registry lists them; a condition with its own page is linked.
3-hydroxy-3-methylglutaryl-coa lyase deficiency, 3-methylcrotonyl-coa carboxylase deficiency, 3-methylglutaconyl-coa hydratase deficiency, arginase deficiency, argininosuccinic aciduria, beta-ketothiolase deficiency, biotinidase deficiency, carbamoyl phosphate synthetase i deficiency, carnitine palmitoyltransferase i deficiency, carnitine palmitoyltransferase ii deficiency, carnitine-acylcarnitine translocase deficiency, citrullinemia, glutaric acidemia type i, glutaric acidemia type ii, homocystinuria, isobutyryl-coa dehydrogenase deficiency, isovaleric acidemia, long-chain 3-hydroxyacyl-coa dehydrogenase deficiency, malonyl-coa decarboxylase deficiency, maple syrup urine disease, medium-chain acyl-coa dehydrogenase deficiency, n-acetylglutamate synthase deficiency, nonketotic hyperglycinemia, ornithine transcarbamylase deficiency, primary carnitine deficiency, propionic/methylmalonic acidemias, short/branched chain acyl-coa dehydrogenase deficiency, tyrosinemia, very long-chain acyl-coa dehydrogenase deficiency