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Набор скоро начнётся NCT06654765

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

— Наблюдательное Inborn Errors of Metabolism

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально
Состояния в реестре: Inborn Errors of Metabolism. Базовые параметры: 1 мес. — 5 лет · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
Египет
Следующий шаг
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Обзор

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

Подробное описание

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.

Первичные конечные точки

  • • To assess weight (in kilograms) of children with IEM in Assiut governorate. [Срок оценки: 1 year]
  • • To assess height (in meters) of children with IEM in Assiut governorate. [Срок оценки: 1 year]
  • • To assess the body mass index for age (BMI for age in kg/m^2) of children with IEM in Assiut governorate. [Срок оценки: 1 year]
  • To assess development of children with IEM in Assiut governorate using the arabic version of the third edition of the Ages and Stages Questionnaires. [Срок оценки: 1 year]
  • • To assess knowledge of the mother regarding the child metabolic disease and dietary recommendations using a questionnaire to be designed. [Срок оценки: 1 year]
  • Assessment of mother's practice using a questionnaire to be designed. [Срок оценки: 1 year]

Критерии участия

Критерии включения

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

Критерии исключения

  • 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…..)

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Другое

Центры проведения

Египет · 1 центр
  • • Genetic counselling center at Al Weladea neighbourhood in Assiut governorate. • Genetics — Asyut

Публикации

  • Duggan C, Irvine AD, O'B Hourihane J, Kiely ME, Murray DM. ASQ-3 and BSID-III's concurrent validity and predictive ability of cognitive outcome at 5 years. Pediatr Res. 2023 Oct;94(4):1465-1471. doi: 10.1038/s41390-023-02528-y. Epub 2023 Feb 25. PMID 36841883
  • El Shafie AM, El-Gendy FM, Allahony DM, Hegran HH, Omar ZA, Samir MA, Kasemy ZA, El-Bazzar AN, Abd El-Fattah MA, Abdel Monsef AA, Kairallah AM, Raafet HM, Baza GM, Salah AG, Galab WS, Alkalash SH, Salama AA, Farag NA, Bahbah WA. Development of LMS and Z Score Growth References for Egyptian Children From Birth Up to 5 Years. Front Pediatr. 2021 Jan 18;8:598499. doi: 10.3389/fped.2020.598499. eColle PMID 33537262
  • Padeniya RN, Thushari G, Nissanka DH, Shashika C, Munasinghe DH, Aberathne DM, Weerawardena PL, Galgamuwa LS, Kumarasinghe N, Liyanage L. Maternal coping strategies in response to child's oncological diseases in Sri Lanka. Acta Oncol. 2020 Jul;59(7):866-871. doi: 10.1080/0284186X.2020.1750695. Epub 2020 Apr 14. PMID 32286131
  • Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018 Dec;8(2):021102. doi: 10.7189/jogh.08.021102. PMID 30479748
  • Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. Ann Transl Med. 2018 Dec;6(24):469. doi: 10.21037/atm.2018.12.34. PMID 30740400

Идентификаторы

NCT: NCT06654765 · Inborn errors of metabolism

Первоисточники (государственные реестры)

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