Facio to discover FSHD clinical outcome measures based on real-world data

Leiden, the Netherlands - March 18, 2019

Facio Therapies announced today that it entered an agreement with the Centre for Human Drug Research (CHDR; Leiden, the Netherlands) on a study aimed at discovering FSHD clinical outcome measures based on real-world patient data obtained with the use of digital technologies. This exploratory study, which is co-financed by Facio and CHDR and will be conducted with the co-operation of the group of leading FSHD clinician, Prof. Baziel van Engelen (Nijmegen, the Netherlands), represents the very first effort in the FSHD field to evaluate the utility of real-world data for monitoring disease progression and response to treatment.

Testimonies from people with FSHD provide penetrating accounts of what it means to live with FSHD. The progressive muscle wasting seen in FSHD has an insidious effect on daily life. Simple, everyday tasks like eating, drinking or rising from a chair become difficult or even impossible. Less visible and therefore underestimated symptoms of FSHD are chronic pain and fatigue. Moreover, FSHD imposes a heavy emotional burden. Frustration, guilt, shame, grief, and social isolation are often reported. Perhaps most importantly, there is uncertainty about the future because the course of FSHD is unpredictable. Facio’s study creates the first-ever opportunity to gather objective, real-world data about the impact of FSHD on daily life.

The study will employ a digital platform developed by CHDR. This platform, dubbed MORE for MOnitoring REmotely, uses a mobile app and a wearable device by which a wide array of physical activity, social activity, and biometric variables can be measured on a (semi-)continuous basis. This will generate an unprecedented wealth of human data, which Facio believes to have the potential to discover clinical outcome measures that are able to discern small changes in FSHD disease status. Facio’s study, which is planned to enroll 40 people with FSHD and 20 healthy controls, is aimed primarily at correlating MORE-generated data from people with FSHD to selected disease activity scores. The study’s secondary objective is to assess the ability of the MORE platform to distinguish people with FSHD from healthy controls. The results of the study will be published.

The potential of real-world data and real-world evidence for clinical drug development is increasingly being recognized by both pharmaceutical companies and regulators. According to the European Medicines Agency, real-world data hold the promise to substantially increase the effectiveness and efficiency of all processes in the development and utilization of medicines, including regulatory decision-making. The US Food and Drug Administration regards real-world tools as a top strategic priority, and has already begun to incorporate real-world evidence in regulatory decisions.

 “Conducting clinical trials in FSHD requires the use of properly validated measures of disease progression and treatment response, but currently these do not exist,” noted Facio’s Managing Director, Otto Postma. “Without such tools, trial results are difficult to interpret, and trial participants may be subjected to more uncertainty and risk than necessary. As a company founded and predominantly financed by people living with FSHD, we are proud to be the first to explore how real-world data may improve the design of FSHD clinical trials.”

About CHDR

The Centre for Human Drug Research (CHDR) is an independent institute that specializes in cutting-edge early-stage clinical drug research. Combining innovative methods and technologies, state-of-the-art facilities, and talented, motivated researchers helps CHDR maximize their clients’ success. In addition, CHDR places the highest priority on their subjects’ comfort and safety, and they play an active role in helping educate the medical and clinical research communities.

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

Facio Therapies, established in 2014, 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).