Facio reveals novel mechanism targeting the cause of FSHD

Tuesday, June 25, 2019

Facio Therapies announced that it discovered inhibition of the enzyme, casein kinase 1 (CK1), as a novel mechanism targeting the cause of FSHD. Using its DUX4 screening platform, Facio had previously deselected several known compounds, including b2AR agonists, BET inhibitors and p38 inhibitors, because they bear the risk of being false positives as they impair myotube fusion in primary myocytes. Facio is developing novel CK1 inhibitors as part of a broader portfolio of proprietary compounds specifically discovered to target the cause of FSHD.

These discoveries were disclosed in a presentation given by Facio’s CSO, Dr Joris De Maeyer, at the FSHD International Research Congress held in Marseille, France on June 19-20, 2019. The full presentation can be downloaded here.

The central event in the pathology of FSHD is the undue production of the DUX4 protein in skeletal muscle. DUX4 sets in motion a cascade of cellular events that eventually result in the devastating effects of FSHD. People with FSHD have a genetic defect that impairs the regulatory mechanisms by which DUX4 is prevented from being produced in muscle. Facio’s single goal is to develop therapies that restore the natural repression of DUX4 as much as possible.

Joris: “The risk of failure throughout the drug discovery and clinical development process is very high. Rigorously reducing this risk to the lowest possible level has consistently been the goal of the close collaboration with our strategic partner, Evotec, and we are proud of being able to present an unprecedented suite of technologies across lab-based and animal model systems. At the basis is our screening platform, which represents the closest lab-based approximation of the natural causative mechanism of FSHD in the field and, moreover, encompasses unique tools to mitigate the risk of selecting false-positive DUX4 repressors. As a company founded and mainly financed by FSHD-affected families, we are keenly aware that progress in drug discovery creates hope in our community. But real hope requires real progress, and real progress requires rigorous R&D. That does take time, but we firmly believe that quality must come before speed.”

About FSHD

FSHD (facioscapulohumeral dystrophy) is a skeletal muscle wasting disease that devastates the lives of over 700,000 people worldwide and those close to them. The loss of muscle strength has a huge impact on daily life. Living with FSHD means living with pain, fatigue, and social isolation. Above all, the future becomes uncertain because the course of the disease is unpredictable. About 20% of people with FSHD end up in a wheelchair. Currently, no therapy for FSHD is available other than forms of temporary symptomatic relief.

About Facio Therapies BV

Established in 2014, Facio Therapies is a Netherlands-based company with a single focus: to overcome FSHD by developing a causal therapy that restores the natural repression of the muscle-toxic protein, DUX4. When unduly produced in skeletal muscle, DUX4 sets in motion a cascade of cellular events that eventually result in the muscle wasting seen in FSHD. Facio is the only one in the FSHD field with a fully automated, high-throughput screening platform based on quantifying the DUX4 protein in unadulterated (“primary”) FSHD-affected muscle cells. Facio delivered the first-ever therapeutically relevant proof of principle in FSHD by showing that one of its lead candidates, an orally active small molecule, represses DUX4 levels produced by human FSHD-affected muscle cells in a unique animal model (“in vivo”).

Rooted in, and dedicated to working for the FSHD community, Facio’s business approach is to have a positive impact on lives rather than to maximize financial gain. Since inception, Facio has raised over €16M in equity funding from FSHD-affected families, their friends, FSHD foundations, and Facio’s drug discovery partner, Evotec. Facio’s Board consists of business leaders from the FSHD community – Kees van der Graaf (Chairman; Netherlands), Neil Camarta (Canada), Dave Mackay (USA), Bill Moss (Australia), and Chip Wilson (Canada) – and Evotec’s CSO, Cord Dohrmann (Germany).

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