Actively Recruiting
Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
Led by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Updated on 2024-07-03
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
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 disease's 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.
CONDITIONS
Brief Title
Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Confirmed DARS2 mutation through genetic analysis
- Ability of the caregiver or participant to speak and understand English at an 8th-grade level
You will not qualify if you...
- Prisoners, non-viable neonates, pregnant women, adults lacking capacity to consent
- Non-English speakers
- Children in foster care or wards of the state
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (virtual or in-person)
Duration - Retrospective from April 2018 to March 2023
Participants undergo retrospective chart and imaging reviews to assess their medical history and confirm diagnosis.
No visits required; medical records and imaging are reviewed
Duration - Up to 11 years until May 2029
Participants complete prospective longitudinal virtual assessments including standardized neurocognitive surveys and wearable sensor evaluations to track neuromotor and neurocognitive function over time.
Periodic virtual assessments; frequency determined by study schedule
Trial Site Locations
Total: 1 location
1
Hugo Moser Center for Leukodystrophies
Baltimore, Maryland, United States, 21205
Actively Recruiting
Research Team
A
Aditii Makwana, MS
J
Jordan Goodman, MS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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