Understanding how LBSL progresses over time
Quantifying Disease Progression in Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
This study looks at how Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL) changes over time in people with the condition and compares it to healthy individuals using brain scans.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 16 Years and up |
| Sex | All |
| Sponsor | Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) Academic / other |
| Locations | 1 site (Amsterdam-Zuidoost, Noord-Holland) |
| Trial ID | NCT05750979 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL), a genetic disorder caused by mutations in the DARS2 gene. It aims to systematically quantify the disease progression using clinimetric outcome scales, which have not been thoroughly studied before. Participants will include individuals diagnosed with LBSL and healthy controls, with assessments conducted through MRI of the brain and spinal cord. The study will help clarify the natural history of LBSL and its clinical manifestations.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 16 years and older with a confirmed diagnosis of LBSL through DARS2 mutation analysis.
Not a fit: Patients with co-existing neurological diseases that complicate the interpretation of data may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression of LBSL, potentially leading to improved management strategies for patients.
How similar studies have performed: While the natural history of LBSL has been studied, this specific approach to quantifying disease progression using clinimetric scales is novel.
Eligibility criteria
Show full inclusion / exclusion criteria
In order to be eligible to participate in this study, a subject must meet all of the following criteria: * Age \> 16 years * Definite diagnosis of LBSL confirmed by DARS2 mutation analysis. * Able to understand Dutch or English and provide informed consent. * No contra-indications for MRI of brain and spinal cord. Subjects eligible to participate as healthy controls must meet all of the following criteria: * Willing to visit the hospital * 16 years or older * Provision of written informed consent to participate in the study obtained from the participant For the MRI controls: - No contra-indications for MRI of the brain and spinal cord A potential subject (patient or healthy control) who meets any of the following criteria will be excluded from participation in this study: * Unable to visit the hospital for the follow-up visits * Co-existing neurological disease that can cause pyramidal tract signs making interpretation of acquired data difficult (for instance, multiple sclerosis, stroke, etc)
Where this trial is running
Amsterdam-Zuidoost, Noord-Holland
- Amsterdam UMC — Amsterdam-Zuidoost, Noord-Holland, Netherlands (Recruiting)
Study contacts
- Principal investigator: M. Engelen, Dr — Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
- Study coordinator: Marije Voermans
- Email: m.m.voermans@amsterdamumc.nl
- Phone: +31205668227
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.