MYO-SHARE: MYO-MRI in Neuromuscular Diseases (MYO-SHARE)

December 24, 2025 updated by: Ottawa Hospital Research Institute

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Enrolling by invitation

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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 patients with rare NMDs using Muscle MRI
  3. Validate diagnostic patterns of muscle pathology detected by MRI for patients with rare NMDs

Additional objective of this study:

1. Provide practice-changing information regarding the optimal use of Muscle MRI in patients suspected of having an NMD

Whole Body Muscle MRI is emerging as a tool to identify diseased muscles that are not readily evaluated by clinical examination, where patterns of involvement may be associated with specific Neuromuscular Diseases (NMDs) and may provide additional evidence to rule in/out a particular genetic variant. Previous studies have outlined more common NMDs, and the majority of rare NMDs do not have large cohorts of patients to clearly establish "specific" muscle patterns. Progress has also been limited by a lack of international standards to acquire MRIs and identifying MRI patterns of affected muscles.

By collectively pooling MRI scans for patients with different NMDs, this study will help improve the characterization of selective patterns of muscle atrophy, fatty degeneration, and muscle edema in specific diseases and avoid misdiagnosis of genetic or acquired NMDs. Recognizing patterns of pathology by muscle or nerve imaging can help to guide or confirm genetic testing and to avoid the more invasive procedure of a muscle biopsy. Finally, this project will inform quantitative MRI approaches by identifying the most appropriate regions of interest to be scanned in clinical trials for specific NMDs.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • Name: Maria Liezl Vinci Duff
  • Phone Number: 19070 6137985555
  • Email: maduff@ohri.ca

Study Locations

  • Canada
    • Ontario
      • Ottawa, Ontario, Canada, K1Y4E9
        • Ottawa Hospital Research Institute

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Neuromuscular Diseases

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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
Time Frame: 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.
10 years
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
Time Frame: 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.
10 years
2. Characterize disease progression and affected muscle regions of interest
Time Frame: 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.
10 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
1. Provide practice-changing information regarding the optimal use of Muscle MRI in patients suspected of having a NMD
Time Frame: 10 years
This study will provide practice-changing information regarding the optimal use of Muscle MRI in patients suspected of having a NMD, impacting both patients as well as the healthcare system that cares for them. This current study will serve as a proof-of-principle of the effectiveness of MYO-Share and demonstrate potential to study larger clinical and research cohorts of both pediatric and adult patients with NMD. To increase awareness and stimulate further research into this area of diagnostic care, we will present our findings at national and international conferences and publish our findings in a high impact peer reviewed journals. Presentations will also be delivered at patient-driven community events.
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Ottawa Hospital Research Institute

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Jodi Warman, MD, PhD, The Ottawa Hospital, University of Ottawa, Ottawa Hospital Research Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
May 12, 2022

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
May 30, 2031

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
May 30, 2031

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
April 27, 2021

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 27, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
April 29, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
December 30, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 24, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
December 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • MYO-SHARE

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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