Children With LeukodystrophyNCT04781010
Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital
An observational study of Children With Leukodystrophy, run by Sohag University.
Trial 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). Read more about this study
- Who is it for?
- Ages 0 to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Children With Leukodystrophy
- What is being tested?
- MRI
- Type of treatment
- Medical device
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- 1 Mar 2021to 31 Mar 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 0 to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Who may be able to join
- The patients fulfilling all the following criteria will be included:
- Age ≤ 18 years.
- The presence of typical clinical, biochemical, and neuroimaging features of leukodystrophies.
Who cannot join
- 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.
Trial locations and contacts
No sites are listed yet.
Abdelraheem Abdrabu, Professor contact
About this study
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
- Being tested
- MRI
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRIDevice
MRI pattern in children with Leukodystrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 2 years
Biochemical changes
- Arylsulfatase A levels can be measured in the leukocytes if suspected Metachromatic Leukodystrophy.
- Galactocerebrosidase (GALC) enzyme level for Krabbe's Disease.
- Plasma VLCFAs for Adrenoleukodystrophy.
- NAA levels in the urine for Canavan's Disease.
- Beta galactosidase in leukocytes deficient in cases of infantile GM1 gangliosidosis \&Hexosaminidase for Tay Sachs disease.
- Plasma FSH ,LH markedly reduced in cases of 4 H (Hypomyelination, hypodontia and hypogonadotropic hypogonadism syndrome).
- Genetic testing for certain diseases
Measured: 2 years
Secondary outcomes (3)
Electrophysiological changes
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.
Measured: 2 years
Tandem mass spectrometry (MS/MS) finding
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.
Measured: 2 years
Urinary organic acid analysis
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Mar 2021
- Study start1 Mar 2021 (estimated)
- Primary completion31 Mar 2023 (estimated)
- Study completion31 Mar 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Children With LeukodystrophyStudies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- Case only
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nagat Mohamed Shehata, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04781010
- Sponsor's protocol ID
- Soh-Med-21-02-01
- Status last verified
- Mar 2021
- First submitted
- 24 Feb 2021
- Last updated
- 4 Mar 2021
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Publications
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.
PubMed 25655951Berger 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.
PubMed 11371752
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital
- ClinicalTrials.gov ID
- NCT04781010
- Acronym / sponsor ID
- Soh-Med-21-02-01
- Conditions
- Children With Leukodystrophy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 1 Mar 2021 (estimated)
- Primary completion
- 31 Mar 2023 (estimated)
- Study completion
- 31 Mar 2023 (estimated)
- First posted
- 4 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (3 listed)
- The patients fulfilling all the following criteria will be included:
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MRIMRI pattern in children with Leukodystrophy | Device | – |
Primary outcome
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).
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
3 secondary outcomes
Electrophysiological changes
Time frame: 2 years
Tandem mass spectrometry (MS/MS) finding
Time frame: 2 years
Urinary organic acid analysis
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2021.
- Results publication: PubMed 25655951Parikh 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.
- Results publication: PubMed 11371752Berger 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.
- Individual participant dataSharing planned: Yes
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Abdelraheem Abdrabu, Professor contact
Questions about this trial
What is this clinical trial studying?
An observational study of Children With Leukodystrophy, run by Sohag University.
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 3 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: status not confirmed, as of the sponsor's last update on 4 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Nagat Mohamed, Master (01093952921, ngat_mohamed_post@med.sohag.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
White matter changes in MRI (time frame: 2 years). The study lists 2 primary outcomes in all. 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 NCT04781010, which also lists 2 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 4 Mar 2021.