Neuromuscular DiseaseNCT04417023
B3 for NMD: Bench to Bedside and Back
An observational study of Neuromuscular Disease, run by Ottawa Hospital Research Institute at 1 site in Canada.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Neuromuscular Disease
- What is being tested?
- B3 for NMD: Bench to Bedside and Back
- How many people
- 500 participants
- Where
- 1 siteCanada
- Study dates
- 6 May 2019to 31 Dec 2033
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens
Who may be able to join
- 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.
Who cannot join
- Patients referred to the neurology clinic without a neuromuscular disorder:
- Central nervous system disorders such as Stroke
- Multiple Sclerosis
- Parkinson's disease
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: B3 for NMD: Bench to Bedside and Back - Transformative Discoveries Leading to Improved Care in Neuromuscular Disease
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.
Read more
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.
Read the 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.
- Conditions
- Neuromuscular Disease
- Being tested
- B3 for NMD: Bench to Bedside and Back
- Medical subject headings
- Neuromuscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
B3 for NMD: Bench to Bedside and BackOther
Transformative discoveries leading to improved care in Neuromuscular Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
To provide a more rapid diagnosis for patients with rare NMD and identify NMD biomarkers.
Identification of genes responsible for rare genetic NMD diseases, biomarkers, and imaging techniques to aid in diagnosis and disease management.
Genetic and Biomarker Samples: 5 to 10 ml of blood or saliva will be collected preferably during routine medical care for DNA extraction. Urine or other bodily fluid collection will be used for biomarker studies. Fibroblast or myoblast samples can be used to establish a cell line. Unaffected family members can also provide tissue samples for DNA extraction or establishment of cell lines that will be stored in the Ottawa Hospital Neuromuscular Biobank.
Imaging: Routine diagnostic imaging studies will be analyzed for pattern of involvement: Electrodiagnostic Studies (Nerve Conduction and Electromyogram Studies) will be included to assess nerve and muscle dysfunction, Ultrasound images of affected muscles and nerves, and MRI whole-body scans will be obtained for whole muscle qualitative evaluation and to assess inflammation and edema
Measured: 5 years
Secondary outcomes (1)
To characterize disease mechanisms to advance potential therapies of tomorrow.
Disease Characterization: Functional validation of gene candidates
Genetic Diagnosis: Disease-causing genetic variants must be proven with genetic or functional data. Biochemical validation of a putative pathological variant to confirm the functional significance of a newly identified mutation can be considered confirmatory in some cases.
Biomarker Development: We will use patient-derived material to develop biomarkers using metabolomic, proteomic, and transcriptional profiling. We will perform computational and in vitro screens using system-wide RNA and chemical libraries to look for modifications of disease-specific biomarkers.
Sample analysis: We developed a collaborative network of laboratory-based scientists at the Ottawa Hospital Research Institute, University of Ottawa Faculty of Medicine, and the Children's Hospital of Eastern Ontario, and across Canada. This is vital to the validation of gene candidates and biomechanical mechanisms for the diagnosis or rare dis
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jun 2020
- Study start6 May 2019
- Primary completion31 Dec 2031 (estimated)
- Study completion31 Dec 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuromuscular DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ottawa Hospital Research Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Dr. Jodi Warman Chardon, MD PhD, Principal investigator, Ottawa Hospital Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04417023
- Sponsor's protocol ID
- B3forNMD
- Status last verified
- Dec 2025
- First submitted
- 1 Jun 2020
- Last updated
- 30 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- B3 for NMD: Bench to Bedside and Back - Transformative Discoveries Leading to Improved Care in Neuromuscular Disease
- ClinicalTrials.gov ID
- NCT04417023
- Acronym / sponsor ID
- B3forNMD
- Conditions
- Neuromuscular Disease
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Ottawa Hospital Research InstituteUniversity, hospital or other
- Study start
- 6 May 2019 (actual)
- Primary completion
- 31 Dec 2031 (estimated)
- Study completion
- 31 Dec 2033 (estimated)
- First posted
- 4 Jun 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (4 listed)
- Central nervous system disorders such as Stroke
- Multiple Sclerosis
- Parkinson's disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| B3 for NMD: Bench to Bedside and BackTransformative discoveries leading to improved care in Neuromuscular Disease | Other | – |
Primary outcome
To provide a more rapid diagnosis for patients with rare NMD and identify NMD biomarkers.
Time frame: 5 years
Identification of genes responsible for rare genetic NMD diseases, biomarkers, and imaging techniques to aid in diagnosis and disease management. Genetic and Biomarker Samples: 5 to 10 ml of blood or saliva will be collected preferably during routine medical care for DNA extraction. Urine or other bodily fluid collection will be used for biomarker studies. Fibroblast or myoblast samples can be used to establish a cell line. Unaffected family members can also provide tissue samples for DNA extraction or establishment of cell lines that will be stored in the Ottawa Hospital Neuromuscular Biobank. Imaging: Routine diagnostic imaging studies will be analyzed for pattern of involvement: Electrodiagnostic Studies (Nerve Conduction and Electromyogram Studies) will be included to assess nerve and muscle dysfunction, Ultrasound images of affected muscles and nerves, and MRI whole-body scans will be obtained for whole muscle qualitative evaluation and to assess inflammation and edema
1 secondary outcome
To characterize disease mechanisms to advance potential therapies of tomorrow.
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Dec 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Dr. Jodi Warman Chardon, MD PhD principal investigator
Ottawa Hospital Research Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuromuscular Disease, run by Ottawa Hospital Research Institute at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 30 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To provide a more rapid diagnosis for patients with rare NMD and identify NMD biomarkers. (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Dec 2025.