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B3 for NMD: Bench to Bedside and Back

NCT04417023 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2025-12-30

No results posted yet for this study

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

Interventions

OTHER

B3 for NMD: Bench to Bedside and Back

Transformative discoveries leading to improved care in Neuromuscular Disease

Sponsors & Collaborators

  • Ottawa Hospital Research Institute

    lead OTHER

Principal Investigators

  • Dr. Jodi Warman Chardon, MD PhD · Ottawa Hospital Research Institute

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-05-06
Primary Completion
2031-12-31
Completion
2033-12-31

Countries

  • Canada

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04417023 on ClinicalTrials.gov