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

October 22, 2024 updated by: Samar Abd El-mohsen Mahfouz, Assiut University
Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate

Study Overview

Status

Not yet recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

201

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Egypt
      • Assiut, Egypt
        • • 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.
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Under five years old children with confirmed diagnosis of IEM who are attending the study settings

Description

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…..)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
• 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.
1 year
• 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.
1 year
• 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.
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.
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.
1 year
• 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.
1 year
Assessment of mother's practice using a questionnaire to be designed.
Time Frame: 1 year
Dietary practice, child care, vaccination and follow up.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assiut University

Investigators

  • Study Director: Sabra Mohamed Ahmed, Prof. Dr, Assiut University
  • Study Director: Taghreed Abdel-Aziz Mohamed, Prof. Dr, Assiut University
  • Principal Investigator: Samar Mahfouz, assistant lecturer, Assiut University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

August 1, 2025

Primary Completion (Estimated)

October 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

October 15, 2024

First Submitted That Met QC Criteria

October 22, 2024

First Posted (Actual)

October 23, 2024

Study Record Updates

Last Update Posted (Actual)

October 23, 2024

Last Update Submitted That Met QC Criteria

October 22, 2024

Last Verified

September 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Inborn errors of metabolism

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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