Unknown OBSERVATIONAL NCT05910151

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Introduction of Tandem Mass Spectrometry (MS/MS) Technology in the Program of Selective Screening of Hereditary Metabolic Diseases in Kazakhstan

Sponsor: West Kazakhstan Medical University

Conditions 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

Interventions Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days) Obtaining Dry Blood Spots From High-risk Newborns (Aged 1-7 Days) Obtaining Dry Blood Spots From High-risk childrens (Aged 8 - 18 years) Obtaining Dry Blood Spots From High-risk childrens (Aged 8 Days- 7 years)

Updated 4 times since 2023 Last updated: Jun 8, 2023 Started: Oct 3, 2022 Primary completion: Dec 31, 2024 Completion: Dec 31, 2024

This information is for research purposes only and is not medical advice. Consult a healthcare provider before making any medical decision.

A observational or N/A phase clinical study on 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency and 3-methylcrotonyl-CoA Carboxylase Deficiency, this trial is ongoing. The trial is conducted by West Kazakhstan Medical University and has accumulated 4 data snapshots since 2022. Longitudinal tracking of this trial contributes to a broader understanding of treatment development timelines.

Status Flow

Change History

4 versions recorded

Jul 2025 — Present [monthly]

Unknown

Status: Recruiting → Unknown
Sep 2024 — Jul 2025 [monthly]

Recruiting
Jul 2024 — Sep 2024 [monthly]

Recruiting
Jul 2023 — Jul 2024 [monthly]

Recruiting

First recorded

Oct 2022

Trial started

Per CT.gov start date — pre-dates our first snapshot

Eligibility Summary

No eligibility information available.

Contact Information

Sponsor contact:

West Kazakhstan Medical University

Data source: West Kazakhstan Medical University

For direct contact, visit the study record on ClinicalTrials.gov .

Study Locations

• Aktobe, Kazakhstan