MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Two pathogenic variants in the anoctamin-5 gene
• T1-weighted MR-images of lower back and leg muscles.
Locations
Other Locations
Denmark
Nanna Scharff Poulsen
RECRUITING
Copenhagen
Contact Information
Primary
Nanna S Poulsen, MD
Nanna.scharff.poulsen@regionh.dk
+4535454346
Backup
John Vissing, MD, DMSc
john.vissing@regionh.dk
Time Frame
Start Date: 2021-04-01
Estimated Completion Date: 2026-08-01
Participants
Target number of participants: 200
Treatments
Anoctaminopathies
Anoctaminopathies including Limb Girdle Muscular Dystrophy R12, Miyoshi distal Muscular Dystrophy type 3 and asymptomatic hyperCKemia
Related Therapeutic Areas
Sponsors
Leads: Rigshospitalet, Denmark