MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

What this Trial Is About

Researchers are studying patients with pathogenic variants in the anoctamin 5 gene (ANO5), which affects skeletal and cardiac muscle and bone. This condition leads to three main types of muscle diseases with different patterns of muscle weakness and progression. The study aims to better understand muscle involvement, disease severity differences between men and women, and if patients can be grouped by muscle involvement patterns using MRI images collected internationally. The study collects MRI scans from around 200 patients worldwide to analyze muscle involvement in patients with anoctaminopathies, including Limb-girdle muscular dystrophy type R12 and Miyoshi distal muscular dystrophy type 3. No interventions are given as this is an observational study. MRI data and clinical information will be shared through a central platform to describe muscle fat content and inflammation and to investigate asymmetry and phenotype-genotype relationships. Participants provide MRI scans of the lower back and leg muscles. Researchers will evaluate muscle fat fraction qualitatively and quantitatively, as well as signs of inflammation. The primary outcome is the qualitative fat fraction in the lower back and legs. Secondary outcomes include fat fraction of the whole body and inflammation evaluation. The study will help clarify disease characteristics and differences by sex. Participation involves sharing MRI data without additional treatments or procedures.

MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants