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Nuclei in FSHD-affected stem cell-derived myotubes turn green when DUX4 is expressed followed by death of the cell

Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD)

FSHD represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. To date, no treatment is available for FSHD. The dearth of adequate experimental models has severely hampered our understanding of the disease and the development of new therapies. Genea Biocells’ technology platform using human pluripotent stem cells (hPSC) represent a renewable, inexhaustible and readily available source of skeletal muscle cells and provides an alternative to invasive and variable patient biopsies. We developed the world’s first human stem cell model of FSHD which shows cellular hallmarks of the disease and which we used successfully to develop a range of primary and secondary drug screening assays. Based on this platform we conducted cell-based screens which resulted in the identification of our lead compound, GBC0905.

Therapeutic Approach

GBC0905 is a first-in-class small molecule that potently and selectively inhibits DUX4 in the affected skeletal muscle cells – a step the FSHD field believes to be curative. Importantly, GBC0905 does not affect normal myogenesis while targeting DUX4-mediated network of effector molecules responsible for cellular toxicity and ultimate muscular degeneration. We are developing GBC0905 for the treatment of both type 1 and type 2 FSHD.

About FSHD

Facioscapulohumeral Dystrophy (FSHD) is an inheritable muscle disease affecting about 1:8,000 people. There is no cure or treatment strategy for patients with FSHD. This debilitating disease slowly consumes skeletal muscle, robbing people of the active, healthy, and independent years of their lives.

FSHD is a genetic disease resulting in progressive muscle weakness

Onset is typically in young adults

Affects ~1:8,000 people

FSHD is caused by aberrant upregulation of DUX4 – a protein toxic to muscle

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