Clinical trials: LBSL
LBSL, Leukoencephalopathies
Quantifying Disease Progression in 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…
- Trial name
- LBSL (NCT05750979)
- Where
- Netherlands
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- M. Engelen
Leukoencephalopathies, LBSL
Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
- Conditions
- Leukoencephalopathies, LBSL, Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, White Matter Disease
- Trial name
- NCT03624374
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
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.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia