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Recruiting NCT03624374

Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Trial Parameters

Condition Leukoencephalopathies
Sponsor Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Study Type OBSERVATIONAL
Phase N/A
Enrollment 100
Sex ALL
Min Age N/A
Max Age N/A
Start Date 2018-04-01
Completion 2029-05

Brief Summary

In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.

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 to consent, non-English speakers or children who are in foster care or wards of the state.

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