Facioscapulohumeral Muscular Dystrophy (FSHD)

FSHD Background

FSHD—and neuromuscular disorders in general—are characterized by increased intramuscular fat, where muscles can eventually be entirely replaced by fat, leading to progressive loss of muscle function and mobility. However, the muscles that are affected in one person may be healthy in another. Affected muscles progress at different rates over time, making disease diagnosis, monitoring, and intervention challenging.

Challenges in FSHD Clinical Trials

FSHD clinical trials often use functional tests, such as the 6-minute walk test and Muscle Function Scale, invasive muscle biopsies, or single-slice MRI to assess disease. While these methods are useful, they have limitations that hinder access to key insights.

Disease heterogeneity

Current methods are unable to capture the full heterogeneity of FSHD—between patients and within an individual.

Subjectivity

These tests can be highly dependent on participant cooperation and motivation making them less specific for disease progression and subjective.

Patient eligibility

These methods often require the participants to be ambulatory, limiting populations eligible for clinical trials.

The Solution for FSHD Clinical Research Teams

To better understand FSHD and develop effective therapeutics and diagnostics, researchers need objective methods that can capture disease variations between individuals and over time, and can accomodate and encourage any participant regardless of mobility.

Researchers need whole-body MRI and expert image analysis. Fortunately, AMRA delivers— providing researchers with precise muscle and fat measurements for the whole body, muscle groups and single muscles.

Why Whole-body MRI?

Whole-body MRI can capture FSHD heterogeneity and potentially provide important information about disease severity in correlation with functional outcomes.

Normal and End-stage muscles may remain nearly the same throughout the relatively short time span of a clinical trial, whereas Intermediate muscles may change substantially. By imaging the Intermediate muscles, and following them over time, researchers can detect small and large changes—potentially even before individuals start to experience difficulties or notice changes in muscle function.

AMRA’s whole-body MRI measurements often correlate to and act as a companion to functional tests, helping eliminate the subjectivity and limitations of current disease assessment methods.

We Believe Those Living With FSHD Can Maintain Daily Mobility

AMRA Medical is committed to improving the lives of people living with FSHD—and we offer our support through our whole-body MRI-based research services. We have worked closely with the researchers at Fulcrum Therapeutics on their Losmapimod program—from their early proof of concept studies to the current Phase 2 program—and we are ready to help teams worldwide push their clinical programs forward.

To all teams researching neuromuscular disorders: AMRA can help you generate robust and compelling data with our MRI measurements, develop precise MRI biomarkers, and build a regulatory strategy that catalyzes success.