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Neuromuscular DiseasesMYO-SHARENCT04866459

MYO-SHARE: MYO-MRI in Neuromuscular Diseases

An observational study of Neuromuscular Diseases, run by Ottawa Hospital Research Institute at 1 site in Canada.

Enrolling by invitation

Enrolling by invitation. The study team selects and invites participants, usually from an existing group of patients.

Sites and contacts
Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Neuromuscular Diseases
How many people
1,000 participants
Where
1 siteCanada
Study dates
12 May 2022to 30 May 2031
How long will I take part?
10 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Study population: Neuromuscular Diseases

Who may be able to join

  • 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.

Who cannot join

  • 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.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Canada1 site

  • Ottawa Hospital Research Institute

    Ottawa, Ontario, K1Y4E9

Other trials in Canada

About this study

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.

Read the 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.

Medical subject headings
Neuromuscular Diseases

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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

    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.

    Measured: 10 years

  2. 2. Characterize disease progression and affected muscle regions of interest

    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.

    Measured: 10 years

  3. 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

    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.

    Measured: 10 years

Secondary outcomes (1)

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

    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.

    Measured: 10 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted29 Apr 2021
  2. Study start12 May 2022
  3. Primary completion30 May 2031 (estimated)
  4. Study completion30 May 2031 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Other
Time perspective
Other
Enrolment
1,000 participants (estimated)
Target duration
10 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT04866459
Sponsor's protocol ID
MYO-SHARE
Acronym
MYO-SHARE
Status last verified
Dec 2025
First submitted
27 Apr 2021
Last updated
30 Dec 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

An observational study of Neuromuscular Diseases, run by Ottawa Hospital Research Institute at 1 site in Canada.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 1 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: enrolling by invitation, as of the sponsor's last update on 30 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

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). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04866459.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Dec 2025.

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