Actively Recruiting
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Led by Rigshospitalet, Denmark · Updated on 2025-04-06
200
Participants Needed
1
Research Sites
278 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Two pathogenic variants in the anoctamin-5 gene
- Availability of T1-weighted MRI scans of lower back and leg muscles
You will not qualify if you...
- Presence of other disorders that cause muscle atrophy, such as polyneuropathy, other muscle diseases, or recent long-term intensive care stay
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Nanna Scharff Poulsen
Copenhagen, Denmark, 2100
Actively Recruiting
Research Team
N
Nanna S Poulsen, MD
CONTACT
J
John Vissing, MD, DMSc
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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