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NCT Number: NCT06654765

Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate

Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate

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Key information

Conditions

Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

1 month–5 year

Sex eligibility

All sexes

Study type

Observational

Primary location

• Genetic counselling center at Al Weladea neighbourhood in Assiut governorate. • Genetics Center at Al-Iman General Hospital in Assiut governorate. • Genetics clinic at Assiut University paediatrics' hospital.

Asyut, Egypt

Location contact

Mohamed Aboubakr Mohamed, Lecturer

CONTACT

[email protected]

01010319892

About this study

Inborn errors of metabolism (IEM) are diseases resulting in deficient activity of an individual enzyme, structural protein in an intermediate metabolic pathway, present clinically in a wide variety of ways a ranging from non-specific chronic issues such as childhood delay in attaining development milestones, to acute decompensation.

The prevalence of all of inborn errors of metabolism globally is 50.9/100000 live birth, In Egypt the prevalence among clinically suspected children is 7.8%.

A study conducted in Minia Governorate (Egypt) on children less than 18 years included 67 children showed that 65.7% of children were under height. Also a study conducted in upper Egypt on 113 PKU patients showed that global developmental delay 54.9% was the most frequent presentations of PKU children. Parents of children with IEM face many challenges; as the financial burden and perceived restrictions in all aspects of life, discrimination by society in general, and the main challenge is dietary restrictions.

Rationale:

Despite being rare in Egypt, IEM are regarded as a national priority because of the substantial health burden they place on the growth and development of the affected children, which can range from delayed achievement of developmental milestones to acute decompensation and death.

However, there is lack of longitudinal studies in Egypt that focus on how IEM affect physical development and growth, as well as the difficulties parents encounter while caring for their children and following up with them. To our knowledge, no local studies have been conducted in this field before.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Under five years old children with confirmed diagnosis of IEM.
  • Attending the study settings.

Exclusion criteria

  • Patients diagnosed since birth with dysmorphic features.
  • Patients diagnosed since birth with congenital anomalies.
  • Patients with other neurological deficits (e.g. cerebral palsy, convulsions, birth anoxia…..)

Treatment and study plan

Primary outcomes

  1. • To assess weight (in kilograms) of children with IEM in Assiut governorate.

    Time frame: 1 year

    The weight will be measured to the nearest 0.1Kg and the patients in light clothes and bare feet.

    The child weight will be measured and the measurements will be plotted on the Egyptian growth charts of girls and boys for different ages from birth to five years old in order to assess their growth.

  2. • To assess height (in meters) of children with IEM in Assiut governorate.

    Time frame: 1 year

    If the child is less than 2 years old or is unable to stand recumbent length will be measured to the nearest 0.1 cm.

    If the child is aged 2 years or older and able to stand, standing height will be measured to the nearest 0.1 cm.

    The child height will be measured and the measurements will be plotted on the Egyptian growth charts of girls and boys for different ages from birth to five years old in order to assess their growth.

  3. • To assess the body mass index for age (BMI for age in kg/m^2) of children with IEM in Assiut governorate.

    Time frame: 1 year

    Body mass index for age (BMI for age) will be calculated in kg/m^2 and plotted on the Egyptian growth charts of girls and boys for different ages from birth to five years old in order to assess their growth.

  4. To assess development of children with IEM in Assiut governorate using the arabic version of the third edition of the Ages and Stages Questionnaires.

    Time frame: 1 year

    The Arabic version of the third edition of the Ages & Stages Questionnaires (ASQ-3) will be used to identify developmental growth in children from one month to five and a half years .

    it measures development in 5 key domains: communication, gross motor, fine motor, problem solving, and personal-social domain.

    Each response on the questionnaire will be converted to a numerical value (usually equal to 10, occasionally to 5, and not yet to 0) in order to determine the score, then each domain's overall score will be summed. ASQ-3 has three scoring zones and the higher the score the better the child development for each developmental area separately.

  5. • To assess knowledge of the mother regarding the child metabolic disease and dietary recommendations using a questionnaire to be designed.

    Time frame: 1 year

    Knowledge regarding the child inborn metabolic diseases such as disease definition, symptoms necessitate immediate hospital admission, disease complications, dietary requirement and restrictions.

  6. Assessment of mother's practice using a questionnaire to be designed.

    Time frame: 1 year

    Dietary practice, child care, vaccination and follow up.

Study contacts

Contact information is provided by the study sponsor or research team.

Samar Mahfouz, assistant lecturer

CONTACT

[email protected]

01006534339

Sponsors and collaborators

Lead sponsor

Assiut University

Other

Registry information

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Oct 23, 2024
Registry last updated
Oct 23, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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