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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
Sponsor:
Information provided by (Responsible Party):
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

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

Condition or disease
Leukoencephalopathies LBSL Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation White Matter Disease Ataxia, Cerebellar Genetic Disease

Detailed Description:

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
Observational Model: Cohort
Time Perspective: Prospective
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





Primary Outcome Measures :
  1. 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.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All case subjects will be known to have leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.
Criteria

Inclusion Criteria:

  1. Confirmed DARS2 mutation through genetic analysis
  2. Ability of the caregiver or participant to speak and understand English at an 8th-grade level

Exclusion Criteria:

  • The vulnerable populations of prisoners, non-viable neonates, pregnant women, adults lacking the capacity to consent, non-English speakers or children who are in foster care or wards of the state.

Information from the National Library of Medicine

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


Contacts
Contact: Miriam Kaufman, BS, BA 443-923-2769 kaufmanmi@kennedykrieger.org
Contact: Amena Smith, MD Ph.D 443-923-1820 smithame@kennedykrieger.org

Locations
United States, Maryland
Hugo Moser Center for Leukodystrophies Recruiting
Baltimore, Maryland, United States, 21205
Contact: Connor Murray    443-923-2750    murryc@kennedykrieger.org   
Principal Investigator: Ali Fatemi, MD MBA         
Sponsors and Collaborators
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Investigators
Principal Investigator: S. Ali Fatemi, MD MBA Moser Center for Leukodystrophies at Kennedy Krieger Institute

Responsible Party: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
ClinicalTrials.gov Identifier: NCT03624374     History of Changes
Other Study ID Numbers: IRB00150619
First Posted: August 10, 2018    Key Record Dates
Last Update Posted: August 10, 2018
Last Verified: May 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:
Natural History Study
Kennedy Krieger Institute
Virtual assessment
DARS2
Johns Hopkins Hospital

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Leukoencephalopathies
Cerebellar Ataxia
Ataxia
Mitochondrial Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebellar Diseases
Dyskinesias
Neurologic Manifestations
Signs and Symptoms
Metabolic Diseases