Quantifying disease progression in LBS

Recruiting

Conditions: Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation
DARS2
10029299
10041543

Registration Number: NL-OMON54947

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 90

Inclusion 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 brain and spinal cord.

Exclusion Criteria

Pediatric patients
Unable to provide informed conset

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Progression of disease on all parameters. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1) to validate the new outcome measures (i.e. is the biomarker predictive) in<br /><br>this cohort.<br /><br>2) to establish if pre-symptomatic patients, and severely affected patients<br /><br>also show progression on the outcome measures under investigation and if that<br /><br>means these patients will become eligible for clinical studies.<br /><br>3) acquire normative data on new potential outcome measures in a cohort of<br /><br>healthy controls.</p><br>