MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
ConditionLimb Girdle Muscular Dystrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorRigshospitalet, Denmark
About this trial
A large cohort of MRI scans from patients with pathogenic variants in the anoctamin 5 gene will be collected through an international collaboration to better describe muscle involvement.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Two pathogenic variants in the anoctamin-5 gene
T1-weighted MR-images of lower back and leg muscles.
Disqualifiers
None
Trial population
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.
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
No intervention
Other interventionNo intervention
Treatment groups
200 Participants
are divided into 1 treatment groupGroup A: Anoctaminopathies1 intervention
Trial outcomes
Primary outcomes
1
Qualitative fat fraction lower back and legs
Qualitative muscle fat fraction analyses of lower back and legs evaluated from T1-weighted images using the Mercury score (score: 0-4)
Time frame
15 minutesSecondary outcomes
1
Qualitative fat fraction of whole body
Qualitative fat fraction analyses of the rest of the body evaluated from T1-weighted images using the Mercury score (score: 0-4)
Time frame
15 minutes2
Quantitative fat fraction of axial and leg muscles
Qualitative fat fraction analyses of axial and leg muscles evaluated from Dixon images
Time frame
60 minutes3
Inflammatory evaluation of axial and leg muscles
Quantitative analysis of inflammation in axial and leg muscles from STIR images
Time frame
60 minutesSponsors and contacts
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Source ClinicalTrials.gov