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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Page 1 of 1 (1 locations)

1

Copenhagen Neuromuscular Center

Copenhagen, Capital Region, Denmark, 2100