B3 for NMD: Bench to Bedside and Back

NCT04417023 | Enrolling By Invitation

• 1 other identifier: B3forNMD
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Neuromuscular Disease

Outcome Measures

Primary Outcomes (1)

• 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

  5 years

Secondary Outcomes (1)

• To characterize disease mechanisms to advance potential therapies of tomorrow.

  5 years

Interventions

B3 for NMD: Bench to Bedside and Back OTHER

Transformative discoveries leading to improved care in Neuromuscular Disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens

You may qualify if:

• 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.

You may not qualify if:

• Patients referred to the neurology clinic without a neuromuscular disorder:
• Central nervous system disorders such as Stroke
• Multiple Sclerosis
• Parkinson's disease

Sponsors & Collaborators

• Ottawa Hospital Research Institute: lead

Study Sites (1)

Ottawa Hospital Research Institute

Ottawa, Ontario, K1Y4E9, Canada

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood, cerebrospinal fluid, Saliva, Skin Biopsy, and Muscle Biopsy

MeSH Terms

Conditions

Neuromuscular Diseases

Interventions

L 644711

Condition Hierarchy (Ancestors)

Nervous System Diseases

Study Officials

• Dr. Jodi Warman Chardon, MD PhD

  Ottawa Hospital Research Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 1, 2020
• First Posted: June 4, 2020
• Study Start: May 6, 2019
• Primary Completion (Estimated): December 31, 2031
• Study Completion (Estimated): December 31, 2033
• Last Updated: December 30, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)