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

Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation

Who can join

All ages · All sexes

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.

About the study

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

Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Participants: 100 · Started: Apr 1, 2018

Contact the study team

• Aditii Makwana, MS · Phone: 667-205-4498
• Jordan Goodman, MS · Phone: 443-923-2769

Official record on ClinicalTrials.gov — NCT03624374

Locations in the U.S.

Conditions

• Leukoencephalopathies
• Genetic Disorders

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.