Can MRI scans reveal the hidden pattern of muscle damage in a rare muscular dystrophy?
NCT ID NCT05102799
First seen Aug 12, 2026 · Last updated Aug 13, 2026 · Updated 1 time
Summary
This study aims to describe the pattern of muscle involvement in people with limb girdle muscular dystrophy caused by mutations in the anoctamin 5 gene. Researchers will collect and analyze MRI scans from 200 participants to see which muscles are affected and how much fat replaces muscle tissue. The goal is to better understand the disease and potentially improve future clinical trial design.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could lead to better ways to track disease progression and design future clinical trials for this type of muscular dystrophy.
- What could go wrong
- This is an observational study, so it won't test a treatment. The findings may not directly change patient care, and the MRI patterns may vary widely among individuals.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 200 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Apr 2021
- Expected to finish
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Aug 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
MRIs of patients with pathogenic variants in the anoctamin 5 gene will be examined. The MRIs are obtained from either former studies or as part of clinical evaluation in the collaborating countries.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Two pathogenic variants in the anoctamin-5 gene * T1-weighted MR-images of lower back and leg muscles. Exclusion Criteria: \- Concomitant other disorders that also can result in muscular atrophy, i.e. polyneuropathy, other muscle diseases, recent long-term stay in intensive care, among others.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Nanna Scharff Poulsen
Copenhagen, 2100, Denmark
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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