An observational study in LBSL and Leukoencephalopathies, sponsored by M. Engelen. Recruiting at 1 site in Netherlands. Open to participants aged 16 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-03-02.
Sponsored by M. Engelen · Observational
Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL) is a genetic disorder caused by biallelic mutations in the DARS2 gene that encodes mitochondrial aspartyl tRNA synthase.(1, 2) It is characterized by typical abnormalities on MRI of the brain and spinal cord.(3) Clinically, the disorder is heterogeneous and can present in the neonatal period, later in childhood or even in adults.(3) In general it can be stated that the earlier presentations are characterized by rapid progression leading to severe disability and death. Presentation at a later age is typically characterized by a more benign disease course, although considerable disability is common. Clinically, the disease presents as a slowly progressive myelopathy with mainly involvement of the corticospinal tracts and the dorsal columns. Although the natural history has been studied in large cohorts, the rate of progression has not been systematically studied with clinimetric outcome scales or potential surrogate outcomes for spinal cord disease.
39 studies on the registry are indexed under Leukoencephalopathies; 16 are open to participants now.
This study's planned enrollment of 20 is below the median of 100 across 28 observational studies indexed under Leukoencephalopathies.
Browse Leukoencephalopathies studies →This is the only study on the registry with M. Engelen as lead sponsor.
Counted across the registry records on this site, refreshed daily.
LBSL patients and healthy age-matched controls.
In order to be eligible to participate in this study, a subject must meet all of the following criteria:
Subjects eligible to participate as healthy controls must meet all of the following criteria:
For the MRI controls:
A potential subject (patient or healthy control) who meets any of the following criteria will be excluded from participation in this study:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The primary outcome is disease progression on all parameters
disease progression
Time frame: 5 years
Plan to share: Undecided
No publications or documents are linked to this record.
Started Mar 2021 (actual). Primary completion is estimated for Dec 2025, 57 months after the start.
How these figures are worked out, and which studies are left out of them.
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