MRI in Pediatric Inherited Neurodegnerative Changes

November 14, 2024 updated by: Yasmin Asem Abulelwafa, Sohag University

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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

40

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 Contact Backup

  • Name: Hisham Amein Yousef, Assistant professor
  • Phone Number: +0201151152564

Study Locations

  • Egypt
      • Sohag, Egypt, 82524
        • Sohag University
        • Contact:
          • Hisham Amein Yousef, Assistant professor
          • Phone Number: +0201151152564
        • Contact:
        • Contact:
          • Nahla Mohamed Ali Hasan, professor
        • Contact:
          • Ahmed Adel Hasan El Beheiry, Assistant professor

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
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

- 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.

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
assessing the MRI patterns of recognition of pediatric neurodegenerative diseases
Time Frame: baseline
The ability of MRI to diagnose pediatric neurodegenerative diseases based on their characteristic imaging findings correlated to clinical and laboratory findings.
baseline

Collaborators and Investigators

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

Sponsor

Sohag 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)

January 1, 2025

Primary Completion (Estimated)

January 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

November 8, 2024

First Submitted That Met QC Criteria

November 8, 2024

First Posted (Actual)

November 12, 2024

Study Record Updates

Last Update Posted (Estimated)

November 19, 2024

Last Update Submitted That Met QC Criteria

November 14, 2024

Last Verified

November 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MRI in neurodegenerative

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

Yes

product manufactured in and exported from the U.S.

Yes

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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