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

NCT04781010 | Unknown DMC

• 1 other identifier: Soh-Med-21-02-01
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief 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).

Conditions

Children With Leukodystrophy

Outcome Measures

Primary Outcomes (2)

• White matter changes in MRI

  Brain MRI of all patients will be systematically reviewed, particularly Sagittal T1, Axial T1, T2-weighted and fluid-attenuated inversion-recovery (FLAIR) sequences. Other sequences will be also reviewed if available, such as MR spectroscopy (MRS) (for mitochondrial disorders or Canavan disease to investigate abnormalities in lactate or N-acetyl aspartate (NAA) respectively), and diffusion-weighting (useful in disorders such as AARS2-related leukoencephalopathy).

  2 years

• Biochemical changes

  1. Arylsulfatase A levels can be measured in the leukocytes if suspected Metachromatic Leukodystrophy. 2. Galactocerebrosidase (GALC) enzyme level for Krabbe's Disease. 3. Plasma VLCFAs for Adrenoleukodystrophy. 4. NAA levels in the urine for Canavan's Disease. 5. Beta galactosidase in leukocytes deficient in cases of infantile GM1 gangliosidosis \&Hexosaminidase for Tay Sachs disease. 6. Plasma FSH ,LH markedly reduced in cases of 4 H (Hypomyelination, hypodontia and hypogonadotropic hypogonadism syndrome). 7. Genetic testing for certain diseases

  2 years

Secondary Outcomes (3)

• Electrophysiological changes

  2 years

• Tandem mass spectrometry (MS/MS) finding

  2 years

• Urinary organic acid analysis

  2 years

Interventions

MRI DEVICE

MRI pattern in children with Leukodystrophy

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study will include children with leukodystrophy diagnosed and followed-up at the pediatric neurology clinic of Sohag University Hospital during the period of the study.

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Sohag University: lead

Related Publications (2)

• Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29.

  PMID: 25655951 RESULT

• Berger J, Moser HW, Forss-Petter S. Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. Curr Opin Neurol. 2001 Jun;14(3):305-12. doi: 10.1097/00019052-200106000-00007.

  PMID: 11371752 RESULT

Central Study Contacts

Nagat Mohamed, Master

CONTACT

01093952921; ngat_mohamed_post@med.sohag.edu.eg

Abdelraheem Abdrabu, Professor

CONTACT

01065067057

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: assistant specialist

Study Record Dates

• First Submitted: February 24, 2021
• First Posted: March 4, 2021
• Study Start: March 1, 2021
• Primary Completion: March 31, 2023
• Study Completion: March 31, 2023
• Last Updated: March 4, 2021

Record last verified: 2021-03

Data Sharing

• IPD Sharing: Will share