Observing the natural history of a rare brain disorder called LBSL

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on individuals diagnosed with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). It involves retrospective chart and imaging reviews, as well as prospective longitudinal virtual assessments to gather detailed information on the neurocognitive and neuromotor impairments associated with this rare genetic disorder. The study aims to identify the phenotypic spectrum of deficits, particularly in gait, and their impact on the quality of life of patients. Currently, there are no targeted therapies or established guidelines for supportive care in LBSL, making this research crucial for understanding the condition better.

Why it matters

Who can join: the full rules

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.

Where it's running

• Hugo Moser Center for Leukodystrophies
  Baltimore, Maryland, United States Recruiting

Study contacts

• Principal investigator: Amena S Fine, MD PhD — Moser Center for Leukodystrophies at Kennedy Krieger Institute
• Study coordinator: Aditii Makwana, MS
• Email: makwana@kennedykrieger.org
• Phone: 667-205-4498

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.