Quantifying Disease Progression in LBSL

Launched by M. ENGELEN · Feb 28, 2023

Keywords

ClinConnect Summary

This clinical trial is looking at a rare genetic disorder called Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL). The goal is to better understand how this condition progresses over time, especially in terms of its effects on the brain and spinal cord. LBSL can affect people of all ages, but those who show symptoms earlier in life often face more severe challenges. The researchers want to measure the rate of progression of the disease using specific outcome scales that help assess its impact on patients.

To participate in the trial, individuals must be at least 16 years old and have a confirmed diagnosis of LBSL through genetic testing. They should also be able to understand Dutch or English to provide informed consent and have no issues that would prevent them from undergoing an MRI scan of the brain and spinal cord. Healthy individuals aged 16 and older can also take part as control participants. Those interested can expect to visit the hospital for assessments, including MRI scans, to help gather important information about the disease. Overall, this trial aims to improve the understanding of LBSL, which could lead to better care for those affected.

Gender

ALL

Eligibility 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)