B3 for NMD: Bench to Bedside and Back
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: B3 for NMD: Bench to Bedside and Back.
- Who it may be relevant to
- Registry conditions: Neuromuscular Disease. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Canada
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
B3 for NMD: Bench to Bedside and Back - Transformative Discoveries Leading to Improved Care in Neuromuscular Disease
Overview
Background: Neuromuscular diseases (NMD) represent a broad group of rare genetic and acquired disorders, affecting over 300,000 people in Canada. Given the multiple different NMD subtypes, almost half of patients with NMD remain undiagnosed. 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
The B3 for NMD creates a streamlined approach to develop the Bench (preclinical and laboratory characterization) to Bedside (clinical and imaging assessment) and Back (biomarker, diagnostics and therapy development) approach to develop transformative therapies for patients with rare NMDs. This study focuses on assessing current diagnostic techniques and disease characterization of difficult-to-diagnose NMDs including Motor Neuron Disease (e.g. ALS), Neuromuscular Junction Disorders, Neuropathies, Myopathies.
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.
Interventions
- Other B3 for NMD: Bench to Bedside and Back
Transformative discoveries leading to improved care in Neuromuscular Disease
Primary outcome measures
- To provide a more rapid diagnosis for patients with rare NMD and identify NMD biomarkers. [Time frame: 5 years]
Secondary outcome measures (1)
- To characterize disease mechanisms to advance potential therapies of tomorrow. [Time frame: 5 years]
Eligibility criteria
Inclusion criteria
Patients or blood relatives of patients classified as having a neuromuscular disease from the following categories:
- Motor Neuron Disease (Amyotrophic Lateral Sclerosis/Spinal Muscular Atrophy)
- Neuropathies
- Neuromuscular Junction Disorders
- Myopathies.
Exclusion criteria
Patients referred to the neurology clinic without a neuromuscular disorder:
- Central nervous system disorders such as Stroke
- Multiple Sclerosis
- Parkinson's disease
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Other
Study locations
Canada · 1 center
- Ottawa Hospital Research Institute — Ottawa
Identifiers
NCT: NCT04417023 · B3forNMD