Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ENROLLING_BY_INVITATION
500 participants
OBSERVATIONAL
2019-05-06
2033-12-31
Brief Summary
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Objective: The purpose of this study is to identify genetic or other markers in patient biosamples (e.g. blood, muscle, skin samples), electrodiagnostic studies or imaging that may help physicians and scientists provide faster ways to diagnose patients with NMD, study disease progression, and discover underlying disease mechanisms that may lead to future NMD therapies.
Eligibility: Adults with NMD
Design: Participants will have blood and/or tissue samples, and data from clinical information, imaging, and electrodiagnostic studies collected. Sample and data collection at the Neuromuscular Center, The Ottawa Hospital may include blood, DNA, saliva, cerebrospinal fluid, urine and stool samples, skin or muscle biopsy, and routine diagnostic imaging studies such as electrodiagnostic studies, ultrasound, and magnetic resonance imaging.
Detailed Description
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Activity 1: Improve Diagnosis: Identification of rare and novel genes causing NMD with next generation sequencing and develop imaging modalities and biomarkers to aid in diagnosis.
A collaborative research team of clinicians, informaticians, and scientists has been formed to rapidly identify the genes and the autoimmune antibodies responsible for a wide spectrum of NMD present in the Canadian population, as well as to explore mechanisms causing these disorders. In addition, novel genetic and biomarker approaches are needed to facilitate diagnosis and permit the identification of mutations in novel genes, leading to discovery of the molecular mechanisms underlying the NMD disease state. Novel diagnostic techniques that examine thousands of genes (e.g. exome/genome sequencing), protein expression (e.g. RNA sequencing) and/or serum biomarkers (e.g. exosomes) will be assessed to provide a more rapid diagnosis for patients with NMD. In addition, imaging characteristics for these rare diseases (MRI, Muscle/Nerve Ultrasound/nerve conduction studies) need to be assessed and compared in order to provide an efficient, effective and cost-savings approach to diagnosis for patients with inherited or sporadic NMD.
Activity 2. Disease Characterization: Identifying pathophysiological mechanisms in NMD
Preclinical research provides the foundation for discoveries that improve lives for patients with NMD. The identification of cellular and molecular events that govern normal muscle and nerve differentiation drives the development of regenerative-based therapies, whereas the characterization of the disease state uncovers new therapeutic targets for disease intervention. Although many NMDs were previously incurable, recent breakthroughs in the molecular pathogenesis of monogenic and acquired disorders are now revealing potential targeted disease-modifying therapies that may improve muscle health and prevent disability. The goal is to assess clinical samples such as blood, skin/muscle biopsies, cerebrospinal fluid obtained through collaboration with NeuroMuscular Centre clinicians and researchers to help develop effective novel/known drug compounds that may act as promising therapies that, in the future, can be rapidly moved into local and multicenter clinical trials.
Conditions
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Study Design
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OTHER
OTHER
Interventions
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B3 for NMD: Bench to Bedside and Back
Transformative discoveries leading to improved care in Neuromuscular Disease
Eligibility Criteria
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Inclusion Criteria
* Motor Neuron Disease (Amyotrophic Lateral Sclerosis/Spinal Muscular Atrophy)
* Neuropathies
* Neuromuscular Junction Disorders
* Myopathies.
Exclusion Criteria
* Central nervous system disorders such as Stroke
* Multiple Sclerosis
* Parkinson's disease
18 Years
ALL
Yes
Sponsors
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Ottawa Hospital Research Institute
OTHER
Responsible Party
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Principal Investigators
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Dr. Jodi Warman Chardon, MD PhD
Role: PRINCIPAL_INVESTIGATOR
Ottawa Hospital Research Institute
Locations
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Ottawa Hospital Research Institute
Ottawa, Ontario, Canada
Countries
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Other Identifiers
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B3forNMD
Identifier Type: -
Identifier Source: org_study_id