Quantifying Disease Progression in LBSL (LBSL)

February 28, 2023 updated by: M. Engelen

Quantifying Disease Progression in Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL) is a genetic disorder caused by biallelic mutations in the DARS2 gene that encodes mitochondrial aspartyl tRNA synthase.(1, 2) It is characterized by typical abnormalities on MRI of the brain and spinal cord.(3) Clinically, the disorder is heterogeneous and can present in the neonatal period, later in childhood or even in adults.(3) In general it can be stated that the earlier presentations are characterized by rapid progression leading to severe disability and death. Presentation at a later age is typically characterized by a more benign disease course, although considerable disability is common. Clinically, the disease presents as a slowly progressive myelopathy with mainly involvement of the corticospinal tracts and the dorsal columns. Although the natural history has been studied in large cohorts, the rate of progression has not been systematically studied with clinimetric outcome scales or potential surrogate outcomes for spinal cord disease.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Netherlands
    • Noord-Holland
      • Amsterdam-Zuidoost, Noord-Holland, Netherlands, 1105AZ

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

LBSL patients and healthy age-matched controls.

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The primary outcome is disease progression on all parameters
Time Frame: 5 years
disease progression
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

M. Engelen

Investigators

  • Principal Investigator: M. Engelen, Dr, Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 11, 2021

Primary Completion (Anticipated)

December 31, 2025

Study Completion (Anticipated)

December 31, 2025

Study Registration Dates

First Submitted

February 18, 2023

First Submitted That Met QC Criteria

February 28, 2023

First Posted (Actual)

March 2, 2023

Study Record Updates

Last Update Posted (Actual)

March 2, 2023

Last Update Submitted That Met QC Criteria

February 28, 2023

Last Verified

February 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • LBSL

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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