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Quantifying Disease Progression in LBSL

NCT05750979 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2023-03-02

No results posted yet for this study

Summary

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.

Conditions

  • LBSL
  • Leukoencephalopathies

Sponsors & Collaborators

  • M. Engelen

    lead OTHER

Principal Investigators

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

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-03-11
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • Netherlands

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05750979 on ClinicalTrials.gov