Screening children in Kazakhstan for hereditary metabolic diseases using advanced testing

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to implement selective screening for inborn errors of metabolism (IEM) in children using tandem mass spectrometry (MS/MS) in Kazakhstan. The study will collect dry blood spots from healthy newborns and children, as well as high-risk newborns, to establish reference values for amino acids and acylcarnitines specific to the Kazakhstan population. By identifying these metabolic disorders early, the study seeks to facilitate timely diagnosis and treatment, potentially preventing severe health complications. The findings will contribute to a better understanding of the prevalence of IEM in the region and improve newborn screening programs.

Why it matters

Who can join: the full rules

Inclusion Criteria:

Referense group: Healthy male and female children aged 1 day to 18 years. Newborns born during the study period (all newborns will be included in this study will meet all selected inclusion criteria to ensure that they do not suffer from any disorder or disease. Healthy male and female newborns must weigh within 2500 -4000 g, gestational age 37-42 weeks, Apgar score above 7 for 10 min.) Sample group: children aged 1 day to 18 years will be selected if one of the main criteria or two or more additional criteria (symptoms) is identified.

Main criteria (symptoms): 1) Sudden deterioration in the clinical condition of the child after a period of normal development (days, weeks, months): acute metabolic encephalopathy, lethargy (coma), seizures resistant to antiepileptic therapy. 2) Hepatomegaly (hepatosplenomegaly). 3) Metabolic acidosis with an increase in the anion gap. 4) Multiple fractures. 5) Child mortality in the family from diseases with similar symptoms.

Additional criteria (symptoms): Treatment-resistant seizures; Abnormal muscle tone: dystonia, hyperkinesis, hypotension; Speech delay; Mental retardation of unknown cause; Cardiomyopathy; Tachypnoea; Frequent spitting up (vomiting); Osteo-articular abnormalities (joint stiffness, chest deformity, rickets-like changes); Hernias (umbilical, inguinal-scrotal); Persistent or recurrent hypoglycemia; Metabolic alkalosis; Increase in ketone bodies in the blood and (or) urine; Hyperammonemia; Increase in the level of liver enzymes (AlAT, AST) more than 1.5 times the norm; Increase in the level of creatine phosphokinase (CPK) more than 2 times the norm; Decrease in the level of alkaline phosphatase (AP) below the age norm; Imaging or electrophysiological studies suggesting metabolic disorders; Leukopenia; Thrombocytopenia; Abnormal urine, body, ear wax, any unusual smell; Hair growth disorders, alopecia; Ophthalmological anomalies; Unusual appearance, dysmorphic features; History of previous sibling death of unknown cause; Parents' consanguinity; A positive family history of metabolic disorders.

Exclusion Criteria:

The study will exclude patients who has:

1. perinatal brain injury,
2. brain injuries,
3. infections of the central nervous system,
4. toxicological diseases,
5. tumors,
6. chromosomal abnormalities,
7. with the symptoms specified in the inclusion criteria, but with a confirmed diagnosis of any disease other than amino acids disorders (AAD), fatty acid oxidation defects (FAOD) or organic academias (OA).

Where it's running

• Regional perinatal center of Aktobe region
  Aktobe, Aktobe Region, Kazakhstan Recruiting

Study contacts

• Principal investigator: Gulmira M. Zharmakhanova, MD, PhD — West Kazakhstan Medical University
• Study coordinator: Gulmira M. Zharmakhanova, MD, PhD
• Email: gmzh@list.ru
• Phone: +701-644-5987

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.