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LBSL clinical trials

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NCT ID: NCT05750979 Recruiting - Clinical trials for Leukoencephalopathies

Quantifying Disease Progression in LBSL

LBSL
Start date: March 11, 2021
Phase:
Study type: Observational

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.

NCT ID: NCT05443906 Recruiting - Clinical trials for Neurodegenerative Diseases

Home Exercise for Individuals With Neurodegenerative Disease

Start date: February 13, 2023
Phase: N/A
Study type: Interventional

The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.

NCT ID: NCT03624374 Recruiting - Genetic Disease Clinical Trials

Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Start date: April 1, 2018
Phase:
Study type: Observational

In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.

NCT ID: NCT03047369 Recruiting - Clinical trials for Adrenoleukodystrophy

The Myelin Disorders Biorepository Project

MDBP
Start date: December 8, 2016
Phase:
Study type: Observational [Patient Registry]

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.