Clinical trial NCT06654765: Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate
Official title: Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Inborn Errors of Metabolism
Keywords: Growth
Development
IEM
Assiut
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2024-10-23
Enrollment: 201
Sex: ALL
Minimum age (years): 1
Maximum age (years): 5
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Under five years old children with confirmed diagnosis of IEM who are attending the study settings

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

Detailed description: 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.

Eligibility criteria: 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.....)

Primary outcomes:
measure: • To assess weight (in kilograms) of children with IEM in Assiut governorate.
timeFrame: 1 year
measure: • To assess height (in meters) of children with IEM in Assiut governorate.
timeFrame: 1 year
measure: • To assess the body mass index for age (BMI for age in kg/m^2) of children with IEM in Assiut governorate.
timeFrame: 1 year
measure: To assess development of children with IEM in Assiut governorate using the arabic version of the third edition of the Ages and Stages Questionnaires.
timeFrame: 1 year
measure: • To assess knowledge of the mother regarding the child metabolic disease and dietary recommendations using a questionnaire to be designed.
timeFrame: 1 year
measure: Assessment of mother's practice using a questionnaire to be designed.
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Assiut
country: Egypt
facility: • 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.
Study officials:
affiliation: Assiut University
name: Sabra Mohamed Ahmed, Prof. Dr
role: STUDY_DIRECTOR
affiliation: Assiut University
name: Taghreed Abdel-Aziz Mohamed, Prof. Dr
role: STUDY_DIRECTOR
affiliation: Assiut University
name: Samar Mahfouz, assistant lecturer
role: PRINCIPAL_INVESTIGATOR
References:
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citation: 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. eCollection 2020.
citation: 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.
citation: 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.
citation: 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.