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Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital | Clinical Trials | Clareo Health

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Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital

NCT04781010•Sohag University

View on ClinicalTrials.gov

Summary

Leukodystrophies are heterogeneous genetic disorders characterized by the selective involvement of white matter in the central nervous system (CNS) (1, 2). Inherited leukodystrophies are diseases of the myelin, including abnormal myelin development, hypomyelination, or degeneration of myelin (3, 4). Most of these disorders fall into one of three categories; lysosomal storage diseases, peroxisomal disorders, and diseases caused by mitochondrial dysfunction and each leukodystrophy has distinctive clinical, biochemical, pathologic, and radiologic features (5).

Eligibility

Age

0 - 18 years

Sex

ALL

Healthy Volunteers

Yes

Inclusion Criteria

•The patients fulfilling all the following criteria will be included:
•1. Age ≤ 18 years.
•2. The presence of typical clinical, biochemical, and neuroimaging features of leukodystrophies.

Exclusion Criteria

•1- Children who have coexistent genetic disorders. 2- Children who have cerebral malformations. 3- History of perinatal asphyxia. 4- History of head trauma or intracranial hemorrhage. 5- Acquired CNS myelin disorders, such as multiple sclerosis and related acquired demyelinating processes, infectious and post-infectious white matter damage, toxic injuries and non-genetic vascular insults.

Key Dates

Start Date

March 1, 2021

Primary Completion Date

March 31, 2023

Completion Date

March 31, 2023

Last Updated

March 4, 2021

Enrollment

100

ESTIMATED participants

Conditions

Children With Leukodystrophy

Interventions

MRI

DEVICE

Contacts

Nagat Mohamed, Master

CONTACT

01093952921 ngat_mohamed_post@med.sohag.edu.eg

Abdelraheem Abdrabu, Professor

CONTACT

01065067057