Status:
ACTIVE_NOT_RECRUITING
3 Year Follow up on ANO5 Patients
Lead Sponsor:
Rigshospitalet, Denmark
Collaborating Sponsors:
Funding: Toyota Foundation
The Hede Nielsen Family Foundation
Conditions:
Neuromuscular Diseases
Limb Girdle Muscular Dystrophy
Eligibility:
All Genders
18+ years
Brief Summary
The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2. inv...
Detailed Description
Muscles of patients with pathogenic variants in the anoctamin 5 gene will over time be infiltrated with fat. This is especially visible on MRI and can be seen even before any symptoms appear. MRI is t...
Eligibility Criteria
Inclusion
- Pathogenic variant in the anoctamin 5 gene
- Age more than 18 years
Exclusion
- None
Key Trial Info
Start Date :
January 1 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 1 2026
Estimated Enrollment :
17 Patients enrolled
Trial Details
Trial ID
NCT05206617
Start Date
January 1 2018
End Date
November 1 2026
Last Update
April 6 2025
Active Locations (1)
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1
Copenhagen Neuromuscular Center
Copenhagen, Capital Region, Denmark, 2100