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

Launched by HUGO W. MOSER RESEARCH INSTITUTE AT KENNEDY KRIEGER, INC. · Aug 7, 2018

Keywords

ClinConnect Summary

This clinical trial is studying a rare brain condition called Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). The researchers want to learn more about how this condition affects people over time. They will do this by reviewing medical records and brain scans, as well as conducting virtual check-ins with participants. The goal is to better understand the natural history of LBSL, which means how it develops and changes in individuals.

To be eligible for this study, participants must have a confirmed genetic mutation known as DARS2. It's also important that participants, or their caregivers, can speak and understand English at an 8th-grade level. This study is open to all ages and genders, but it excludes certain groups, such as people who cannot consent for themselves or non-English speakers. If you join, you can expect to provide information about your health and participate in follow-up assessments to help researchers gather valuable insights about LBSL.

Gender

ALL

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.