Study of the Natural History and Progression of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation LBSL

What this Trial Is About

This research investigates Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation LBSL, a rare genetic disorder causing progressive problems with movement, coordination, and some cognitive functions. The study aims to understand the range and progression of neuromotor and neurocognitive impairments in individuals with LBSL by reviewing past medical records and performing ongoing virtual assessments. The goal is to better characterize the diseases natural history and link symptoms to genetic factors, helping guide future care and treatment development. Participants will undergo retrospective review of medical charts and imaging studies, along with prospective longitudinal virtual evaluations. These virtual assessments include standardized surveys to measure behavior, social communication, executive function, adaptive skills, and quality of life. Wearable sensor technology and clinical tests like the Timed Up and Go and Long Walk Test will assess ataxia and balance. The study does not involve drug interventions but focuses on detailed observation and data collection. Throughout the study, participants will be involved in virtual assessments and their past medical data will be reviewed to track changes over time. Researchers will measure motor and cognitive function, quality of life, and movement abilities using specialized surveys and wearable devices. The study started in April 2018 and will continue monitoring participants through May 2029, aiming to gather extensive data to inform future supportive therapies and treatment priorities for LBSL patients.

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