Inborn Errors of MetabolismNCT06654765
Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate
An observational study of Inborn Errors of Metabolism, run by Assiut University at 1 site in Egypt.
Trial summary
Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate Read more about this study
- Who is it for?
- Ages 1 month to 5 years
- Conditions the study is for
- Inborn Errors of Metabolism
- How many people
- 201 participants
- Where
- 1 siteEgypt
- Study dates
- Aug 2025to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 5 years
- All sexes
- No healthy volunteers
- Child
Study population: Under five years old children with confirmed diagnosis of IEM who are attending the study settings
Who may be able to join
- Under five years old children with confirmed diagnosis of IEM.
- Attending the study settings.
Who cannot join
- 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…..)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Egypt1 site
• 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
Mohamed Aboubakr Mohamed, Lecturer, 01010319892, mohamedbakr88@aun.edu.eg
About this study
Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate
Read the 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.
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Growth, Development, IEM, Assiut
- Medical subject headings
- Metabolism, Inborn Errors
What is being measured
The primary outcome is the main question the study is designed to answer.
• To assess weight (in kilograms) of children with IEM in Assiut governorate.
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.
Measured: 1 year
• To assess height (in meters) of children with IEM in Assiut governorate.
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.
Measured: 1 year
• To assess the body mass index for age (BMI for age in kg/m^2) of children with IEM in Assiut governorate.
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.
Measured: 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.
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.
Measured: 1 year
• To assess knowledge of the mother regarding the child metabolic disease and dietary recommendations using a questionnaire to be designed.
Knowledge regarding the child inborn metabolic diseases such as disease definition, symptoms necessitate immediate hospital admission, disease complications, dietary requirement and restrictions.
Measured: 1 year
Assessment of mother's practice using a questionnaire to be designed.
Dietary practice, child care, vaccination and follow up.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Oct 2024
- Study startAug 2025 (estimated)
- Primary completionOct 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Inborn Errors of MetabolismStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 201 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Samar Abd El-mohsen Mahfouz, Assiut University
- Investigators
- Sabra Mohamed Ahmed, Prof. Dr, Study director, Assiut UniversityTaghreed Abdel-Aziz Mohamed, Prof. Dr, Study director, Assiut UniversitySamar Mahfouz, assistant lecturer, Principal investigator, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06654765
- Sponsor's protocol ID
- Inborn errors of metabolism
- Status last verified
- Sep 2024
- First submitted
- 15 Oct 2024
- Last updated
- 23 Oct 2024
- Results posted
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 36841883El 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.
PubMed 33537262Padeniya 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.
PubMed 32286131Waters 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.
PubMed 30479748Agana 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.
PubMed 30740400
Study at a glance
From the registry record, last updated by the sponsor on 23 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate
- ClinicalTrials.gov ID
- NCT06654765
- Acronym / sponsor ID
- Inborn errors of metabolism
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Growth, Development, IEM, Assiut
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 201 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- Aug 2025 (estimated)
- Primary completion
- Oct 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 23 Oct 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 month to 5 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Under five years old children with confirmed diagnosis of IEM who are attending the study settings
Key inclusion criteria (2 listed)
- Under five years old children with confirmed diagnosis of IEM.
- Attending the study settings.
Key exclusion criteria (3 listed)
- 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…..)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
• 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.
• 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.
• 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.
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.
• 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.
Assessment of mother's practice using a questionnaire to be designed.
Time frame: 1 year
Dietary practice, child care, vaccination and follow up.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Oct 2024.
- Background: PubMed 36841883Duggan 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.
- Background: PubMed 33537262El 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.
- Background: PubMed 32286131Padeniya 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.
- Background: PubMed 30479748Waters 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.
- Background: PubMed 30740400Agana 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Sabra Mohamed Ahmed, Prof. Dr study director
Assiut University
Taghreed Abdel-Aziz Mohamed, Prof. Dr study director
Assiut University
Samar Mahfouz, assistant lecturer principal investigator
Assiut University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism, run by Assiut University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 23 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Samar Mahfouz, assistant lecturer (01006534339, samarmohsen2030@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
• To assess weight (in kilograms) of children with IEM in Assiut governorate. (time frame: 1 year). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06654765, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Oct 2024.