Natural History Study of LBSL
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|ClinicalTrials.gov Identifier: NCT03624374|
Recruitment Status : Recruiting
First Posted : August 10, 2018
Last Update Posted : August 10, 2018
|Condition or disease|
|Leukoencephalopathies LBSL Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation White Matter Disease Ataxia, Cerebellar Genetic Disease|
LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) is a rare genetic disorder characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. Manual dexterity becomes impaired to a variable degree. Associated problems include dysarthria, mild cognitive decline and learning problems, and epilepsy. LBSL is diagnosed by identification of biallelic pathogenic variants in DARS2, encoding mitochondrial aspartyl tRNA synthetase and characteristic abnormalities observed on the brain and spinal cord MRI. Most of the literature consists of case reports and case series and there are only limited data that provide details on genotype-phenotype correlations. There is very little quantitative or semi-quantitative information about neurocognitive and neuromotor impairment in LBSL. There are currently no targeted therapies or guidelines about supportive therapies for LBSL.
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
We hypothesize that 1) there will be a broad phenotypic spectrum of neuromotor and neurocognitive deficits in LBSL patients; 2) most impairment will likely be related to gait; 3) there will be a threshold of impairment in gait that is associated with poorer quality of life for these patients; 4) and that even in patients with apparently mild disease there will be neurocognitive deficits related to cortical and cerebellar white matter abnormalities.
Answering these hypotheses will form the basis of a better understanding of the natural history of LBSL. It will help further characterize the expected level of impairment based on a patient's genotype. This will be particularly helpful for providing anticipatory guidance for newly diagnosed infants and children with LBSL. The information will also help identify priorities for existing supportive therapies and help clarify the common or clinically meaningful symptoms that should be targeted for new treatments.
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation|
|Actual Study Start Date :||April 1, 2018|
|Estimated Primary Completion Date :||May 2023|
|Estimated Study Completion Date :||May 2023|
- Track Natural History of LBSL patients [ Time Frame: 4/1/2018 - 3/31/2023 ]In patients with LBSL the study team will collect as much information as available from existing medical records including clinical evaluations, imaging studies and neuropsychological and motor function evaluations.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03624374
|Contact: Miriam Kaufman, BS, BAfirstname.lastname@example.org|
|Contact: Amena Smith, MD Ph.Demail@example.com|
|United States, Maryland|
|Hugo Moser Center for Leukodystrophies||Recruiting|
|Baltimore, Maryland, United States, 21205|
|Contact: Connor Murray 443-923-2750 firstname.lastname@example.org|
|Principal Investigator: Ali Fatemi, MD MBA|
|Principal Investigator:||S. Ali Fatemi, MD MBA||Moser Center for Leukodystrophies at Kennedy Krieger Institute|