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Active Not Recruiting
NCT05102799
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Conditions: Limb Girdle Muscular Dystrophy
Sex: All
Healthy volunteers: No
Enrollment: 200
Sponsor: Rigshospitalet, Denmark
Location: Nanna Scharff Poulsen Copenhagen
Summary
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
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.
Source: ClinicalTrials.gov (NCT05102799). StuddyBuddy aggregates publicly available trial information.
