Status:

ENROLLING_BY_INVITATION

MYO-SHARE: MYO-MRI in Neuromuscular Diseases

Lead Sponsor:

Ottawa Hospital Research Institute

Conditions:

Neuromuscular Diseases

Eligibility:

All Genders

18+ years

Brief Summary

Neuromuscular Diseases (NMDs) affect \> 7 million people worldwide. NMDs are often difficult to accurately diagnose, with over 200 different genetic causes with overlapping clinical presentations. Mus...

Detailed Description

The primary objectives of this study are: 1. Establish a large, well-defined international cohort of patients with NMDs with Muscle MRI 2. Identify diagnostic patterns of muscle involvement for patie...

Eligibility Criteria

Inclusion

  • Clinical diagnosis of neuromuscular disease: Potential participants will have a diagnosis of NMD, based on clinical testing, electrodiagnostic studies and antibody testing or genetic testing of a pathogenic variant based on the American College of Medical Genetics criteria \[63\]. Standard-of-care assessments include a detailed NMD examination by neurogenetics or neuromuscular physician, a three-generation family history, genetic testing, electrophysiological studies, and standard myopathy serology (e.g., creatine kinase level), muscle biopsy, muscle ultrasound, etc. will be considered for this study.

Exclusion

  • Patients with contraindications to MRI 1.1 Including non-MR compatible cardiac pacemaker or electronic devices 1.2 Severe claustrophobia
  • Patients with clinical presentation not consistent with confirmed NMD
  • Patients with advanced disease with severe quadriparesis (Medical Research Council Muscle Rating score of \<3 in \>10 muscle groups) or asymptomatic patients, as severe fatty replacement of muscle tissue in the late disease of most muscles or normal scans, will limit the value of diagnosis by imaging.

Key Trial Info

Start Date :

May 12 2022

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

May 30 2031

Estimated Enrollment :

1000 Patients enrolled

Trial Details

Trial ID

NCT04866459

Start Date

May 12 2022

End Date

May 30 2031

Last Update

December 30 2025

Active Locations (1)

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1

Ottawa Hospital Research Institute

Ottawa, Ontario, Canada, K1Y4E9