AzTrials
AzTrials

Pediatric Neurological DisorderNCT06682624

MRI in Pediatric Inherited Neurodegnerative Changes

An observational study of Pediatric Neurological Disorder, run by Sohag University at 1 site in Egypt.

Not yet recruiting

Opening soon. The study is approved but enrolment has not started yet. Sites may already take enquiries.

Sites and contacts
Official record
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Trial summary

This study aims to evaluate the diagnostic capability of brain MRI in establishing pattern recognition approach in pediatric inherited neurodegenerative disorders. Therefore, taking into consideration specific MRI findings, we aim to highlight the potential of MRI to predict the diagnosis of pediatric inherited… Read more about this study

Who is it for?
Ages Up to 18 years
Conditions the study is for
Pediatric Neurological Disorder
What is being tested?
MRI
Type of treatment
Medical device
How many people
40 participants
Where
1 siteEgypt
Study dates
Jan 2025to Dec 2026
How long will I take part?
1 Year
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 Up to 18 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Study population: forty patients of both sexes from day one of life until 18 years.

Who may be able to join

  • Patients with clinical suspicion of neuro-developmental delay and metabolic disease consulted for or referred to pediatric neurology.
  • Patients known to have inherited neurodegenerative diseases under follow-up.

Who cannot join

  • Patients with prior histories of perinatal ischemia or stroke, hypoxic-ischemic encephalopathy, birth trauma or accident, or known systemic diseases (congenital heart disease, renal failure, or autoimmune disorders) will be excluded.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Yasmin Asem Abu Elwafa Elsayed, Assistant lecturer contact

+02 01007680891

yasminelsheikh@med.sohag.edu.eg

Hisham Amein Yousef, Assistant professor contact

+0201151152564

Egypt1 site

  • Sohag University

    Sohag, Sohag Governorate, 82524

    Yasmin Asem Abu Elwafa Elsaid, Assistant Lecturer, +0201007680891, yasminelsheikh@med.sohag.edu.eg

    Hisham Amein Yousef, Assistant professor, +0201151152564

Other trials in Egypt

About this study

Official title: Magnetic Resonance Imaging Pattern Recognition Approach in Pediatric Inherited Neurodegenerative Diseases

This study aims to evaluate the diagnostic capability of brain MRI in establishing pattern recognition approach in pediatric inherited neurodegenerative disorders.

Therefore, taking into consideration specific MRI findings, we aim to highlight the potential of MRI to predict the diagnosis of pediatric inherited neurodegenerative diseases.

Read the detailed description

Pediatric inherited neurodegenerative diseases are non-homogenous group of diseases caused by inborn errors of metabolism (IEMs) that mainly impact the central nervous system. They typically affect newborns and infants . Genetic defects causing specific enzyme deficiencies that lead to deficiency or toxic accumulation of essential metabolites with specific biochemical and molecular abnormalities are the cause of these diseases .

Inborn errors of metabolism are uncommon, which leads to a lack of experience for most neuroradiologists to diagnose these disorders easily. Moreover, most of these disorders manifest in nonspecific manner, creating a diagnostic difficulty for pediatricians, neurologists, and geneticists .

Clinical presentation may be confusing and potentially lead to a delay in the diagnosis and treatment. Incidence of these disorders may vary from one region to another, being higher in communities with consanguineous marriages, ranging from 1.2 to 2 per 100,000 live births. Most exhibit an autosomal recessive mode of inheritance and fewer exhibit an X-linked mode of inheritance.

Multiple methods can be used to classify neurometabolic diseases according to their clinical presentation, biochemical features, impacted cellular organelle, or involved location of the brain.

As a non-invasive means, neuroimaging approaches play a major role in increasing diagnostic accuracy and patient follow-up in IEM by assessing the timing, degree, reversibility, and brain injury.

Imaging based classification includes leukodystrophy (primary involvement of white matter due to genetic abnormality), leukoencephalopathy (secondary involvement of white matter either due to genetic or acquired systemic disorder), poliodystrophy (predominant involvement of grey matter), and pandystrophy (mixed involvement of both white and grey matter).

White matter of the central nervous system is usually affected due to many pathological processes such as delayed myelination (myelin maturation delayed for expected age), hypomyelination (scarcity of myelin or arrest in myelination process), dysmyelination (deposition of abnormally composed fragile myelin), demyelination (secondary loss of myelin that may have been previously normal) and myelinopathy (vacuolation due to deranged brain iron and water hemostasis).

The preferred method for evaluating pediatric inherited neurodegenerative disorders is magnetic resonance imaging (MRI). Examining MRI patterns and clinical indicators aids in narrowing the differential and customizing further laboratory (focused metabolomics) or genetic research.

Magnetic resonance imaging (MRI) can be useful and even crucial for prompt treatment before the receipt of expensive and time-consuming results from genetic or biochemical tests.

Being tested
MRI
Keywords
MRI pediatric neurodegenerative diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • MRIDevice

    Magnetic Resonance Imaging in recognition of pediatric neurodegenerative disease patterns

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. assessing the MRI patterns of recognition of pediatric neurodegenerative diseases

    The ability of MRI to diagnose pediatric neurodegenerative diseases based on their characteristic imaging findings correlated to clinical and laboratory findings.

    Measured: baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted12 Nov 2024
  2. Study startJan 2025 (estimated)
  3. Primary completionJan 2026 (estimated)
  4. Study completionDec 2026 (estimated)

Resources

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
Cohort
Time perspective
Prospective
Enrolment
40 participants (estimated)
Target duration
1 Year
IDs, dates and publications
ClinicalTrials.gov ID
NCT06682624
Sponsor's protocol ID
MRI in neurodegenerative
Status last verified
Nov 2024
First submitted
8 Nov 2024
Last updated
19 Nov 2024
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
Yes
Individual data sharing
Undecided

Publications

  • van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12.

    PubMed 31307818

  • Datar R, Prasad AN, Tay KY, Rupar CA, Ohorodnyk P, Miller M, Prasad C. Magnetic resonance imaging in the diagnosis of white matter signal abnormalities. Neuroradiol J. 2018 Aug;31(4):362-371. doi: 10.1177/1971400918764016. Epub 2018 Mar 8.

    PubMed 29517408

  • Loftus JR, Puri S, Meyers SP. Multimodality imaging of neurodegenerative disorders with a focus on multiparametric magnetic resonance and molecular imaging. Insights Imaging. 2023 Jan 16;14(1):8. doi: 10.1186/s13244-022-01358-6.

    PubMed 36645560

  • Lim YT, Mankad K, Kinali M, Tan AP. Neuroimaging Spectrum of Inherited Neurotransmitter Disorders. Neuropediatrics. 2020 Feb;51(1):6-21. doi: 10.1055/s-0039-1698422. Epub 2019 Oct 21.

    PubMed 31634934

  • Lai LM, Gropman AL, Whitehead MT. MR Neuroimaging in Pediatric Inborn Errors of Metabolism. Diagnostics (Basel). 2022 Mar 30;12(4):861. doi: 10.3390/diagnostics12040861.

    PubMed 35453911

  • Alamri A, Aljadhai YI, Alrashed A, Alfheed B, Abdelmoaty R, Alenazi S, Alhashim A, Benini R. Identifying Clinical Clues in Children With Global Developmental Delay / Intellectual Disability With Abnormal Brain Magnetic Resonance Imaging (MRI). J Child Neurol. 2021 May;36(6):432-439. doi: 10.1177/0883073820977330. Epub 2020 Dec 9.

    PubMed 33295251

  • Soni N, Ora M, Bathla G, Nagaraj C, Boles Ponto LL, Graham MM, Saini J, Menda Y. Multiparametric magnetic resonance imaging and positron emission tomography findings in neurodegenerative diseases: Current status and future directions. Neuroradiol J. 2021 Aug;34(4):263-288. doi: 10.1177/1971400921998968. Epub 2021 Mar 5.

    PubMed 33666110

  • Wenger KJ, Koldijk CE, Hattingen E, Porto L, Kurre W. Characterization of MRI White Matter Signal Abnormalities in the Pediatric Population. Children (Basel). 2023 Jan 24;10(2):206. doi: 10.3390/children10020206.

    PubMed 36832335

  • Al Orf A, Waheed KB, Ali EM, Muhammad AK, Al Zahrani FM, Seth SA, Al Jubair NN, Harisi HS, Arulanantham ZJ. Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict? Neurosciences (Riyadh). 2020 Oct;25(5):392-398. doi: 10.17712/nsj.2020.5.20200072.

    PubMed 33459289

  • Aksoy DO, Alkan A. Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features. Curr Med Imaging Rev. 2019;15(3):255-268. doi: 10.2174/1573405613666171123152451.

    PubMed 31989877

Questions about this trial

What is this clinical trial studying?

An observational study of Pediatric Neurological Disorder, run by Sohag 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 1 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 19 Nov 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 Yasmin Asem Abu Elwafa Elsayed, Assistant lecturer (+02 01007680891, yasminelsheikh@med.sohag.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

assessing the MRI patterns of recognition of pediatric neurodegenerative diseases (time frame: baseline). 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 NCT06682624, which also lists 10 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 19 Nov 2024.

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