Observing the natural history of a rare brain disorder called LBSL
Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
This study looks at how a rare brain disorder called LBSL affects movement and thinking in patients to better understand their challenges and improve their quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. Academic / other |
| Locations | 1 site (Baltimore, Maryland) |
| Trial ID | NCT03624374 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a confirmed DARS2 mutation and the ability to communicate in English at an 8th-grade level.
Not a fit: Patients who do not have a confirmed DARS2 mutation or those who cannot communicate in English may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression and impact of LBSL, potentially guiding future therapeutic approaches.
How similar studies have performed: While there is limited data on LBSL, similar observational studies in rare genetic disorders have provided valuable insights, suggesting potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Baltimore, Maryland
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.