MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Recruiting
Observational Study
Limb Girdle Muscular Dystrophy
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 200 (estimated)
- Sponsor
- Rigshospitalet, Denmark · Other
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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.
Trial Locations
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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 …
Contacts