Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Recruiting
Observational Study
Leukoencephalopathies
LBSL
Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
White Matter Disease
Ataxia, Cerebellar
Genetic Disease
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Other
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About This Trial
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
1. Confirmed DARS2 mutation through genetic analysis
2. Ability of the caregiver or participant to speak and understand English at an 8th-grade level
Exclusion Criteria:
* The vulnerable populations of prisoners, non-viable neonates, pregnant women, adults lacking the capacity…
Contacts