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. Muscle Magnetic Resonance Imaging (Muscle MRI) allows for non-invasive, comprehensive, and reproducible evaluation of disease-affected and spared muscles. The selective replacement of muscle tissue by fat is the main contributor to pathological patterns determined by T1-weighted Muscle MRI. Although the diagnostic utility of Muscle MRI has been emphasized in the last years, the very low incidence of NMDs (rate .01 to 15 per 100,000 population), and the challenge to attain sufficient sample sizes to study the imaging characteristics of these patients have limited their acceptance as first-line, non-invasive diagnostic procedures. The purpose of this study is to examine the selective pattern of muscle pathology as detected by MRI of different sub-types of NMDs and validate this technique as an important and helpful non-invasive diagnostic screening tool.
This study will prospectively assemble a well-defined cohort of 1000 patients with NMDs undergoing whole body Muscle MRI from 7 Canadian and 7 international centers. It will develop a high-standard methodological approach for MRI diagnosis in this cohort, based on T1 weighted imaging characteristics, and will validate this method by testing the developed algorithm in a different cohort of patients. Muscle MRI scans will be collected by a well-established network of neuromuscular disease (NMD) centers to ensure comparability between the different centers.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
1.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 Criteria:
1. Patients with contraindications to MRI 1.1 Including non-MR compatible cardiac pacemaker or electronic devices 1.2 Severe claustrophobia
2. Patients with clinical presentation not consistent with confirmed NMD
3. 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.
Primary outcome measure(s)
1. Provide a very large and unique, well-defined international cohort of genetically diagnosed patients with NMDs and whole-body Muscle MRI scans with carefully curated phenotypes — 10 years This study will provide a very large and unique, well-defined international cohort (1000 participants) of genetically diagnosed patients with NMDs and whole-body Muscle MRI scans with carefully curated phenotypes. This study aims to provide the diagnostic rate of Muscle MRI in a well-defined cohort and assess the diagnostic value of certain selective patterns of pathology obtained by T1 weighted Muscle MRI.
2. Characterize disease progression and affected muscle regions of interest — 10 years Although diagnostic muscle MRI is resulting in an increased pooling of MRI data, often these data are never published/publicly shared and are lost to science. Combining these data through effective networking with MYO-Share will help further define the spectrum of selective patterns of pathology (including muscles not normally biopsied, e.g. diaphragm, trunk, neck and head), to detect patterns that may suggest a common underlying mechanism or pathway. This study will also help characterize disease progression and affected muscle regions of interest for targeted biopsies and relevant for quantitative MRI.
3. Provide the diagnostic rate of Muscle MRI in a well-defined cohort and assess the diagnostic value of certain selective patterns of pathology obtained by T1 weighted Muscle MRI — 10 years In order to extend both the acquisition of imaging data and the expertise in data analysis and pattern recognition, it will be important to clearly demonstrate the added diagnostic value. If Muscle MRI is demonstrated to have a high diagnostic accuracy, this would benefit patients as it could confirm a genetic diagnosis and avoid unnecessary muscle biopsies.
Trial sites (1)
Facility
City
Region
Status
Ottawa Hospital Research Institute
Ottawa
Ontario
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This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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