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

March 2, 2021 updated by: Nagat Mohamed Shehata, Sohag University

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).

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Not yet recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

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

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

  • Name: Abdelraheem Abdrabu, Professor
  • Phone Number: 01065067057

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

1 second to 18 years (Child, Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

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.

Description

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.

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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
White matter changes in MRI
Time Frame: 2 years
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
Time Frame: 2 years
  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 Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Electrophysiological changes
Time Frame: 2 years
including nerve conduction studies and electromyography will be useful in identifying peripheral nerve involvement (e.g., in AMN, MLD, Krabbe) or myopathy with or without a neuropathy (e.g., in mitochondrial diseases) or metachromatic leukodystrophy. Moreover, electroencephalographic data will be assessed, particularly in patients with seizures.
2 years
Tandem mass spectrometry (MS/MS) finding
Time Frame: 2 years
We will obtain patients' blood samples on a Glutheric card, Acylcarnitines and amino acids will be analysed using ACQUTIY TQD Tandem quadrupole UPLC/MS/MS with apositive electrospray ionization prope according to the manufacturer's instructions.
2 years
Urinary organic acid analysis
Time Frame: 2 years
by GC/MS using agilent 7890 and 5975 systems. Results will be calculated in mol/mmol creatinine using acalipration curve of the organic acid of interest that will be processed under the same conditions.
2 years

Collaborators and Investigators

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

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
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 (Anticipated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
March 1, 2021

Primary Completion (Anticipated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
March 31, 2023

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
March 31, 2023

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
February 24, 2021

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 2, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 4, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 4, 2021

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 2, 2021

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
March 1, 2021

More Information

Terms related to this study

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • Soh-Med-21-02-01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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