Quantifying disease progression in LBSL

Quantifying disease progression in LBSL - Disease progression in LBSL

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON54947

Enrollment

Registered

2021-04-26

Start date

2021-10-15

Completion date

Unknown

Last updated

2024-04-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: Pediatric patients Unable to provide informed conset

Design outcomes

Primary

Measure	Time frame
Progression of disease on all parameters.	—

Secondary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results