Latest Research News – Events of the FSHD Society in late June/early July 2020

July 11, 2020 By Bine Haase

by Sylvie Genet and Bine Haase

The FSHD Society organised a few scientific as well as patient-oriented events from the end of June to the beginning of July. Due to the global situation caused by the Covid-19 pandemic, these conferences could not take place in Washington D.C. as originally planned and were converted to a completely virtual format. Following I would like to give a short overview of the topics covered at the individual events.

International Research Conference 2020 (IRC) – 25 and 26 June
With more than 300 participants from all over the world, mainly researchers, physicians and scientists, but also representatives of pharmaceutical companies (including Fulcrum, Acceleron Pharma) and patients and representatives of various patient organisations (FSHD diagnosis group in the DGM e. V., FSHD Europe, FSHD Support Group UK, Ami FSH, AFM-Téléthon and many more), this year’s scientific conference was the largest ever.
The most important topics and presentations

  • Research and possible models:
    The presentations focused on biomarkers (an indicator of disease activity), drugs in early laboratory research on human cells, muscle regeneration and the use of animal models (including FSHD mouse, FSHD zebrafish). As one of the speakers, Maria Traficante spoke about SLC34A2 as a potential biomarker for FSHD that can be measured in blood without the need for a biopsy.
  • Genetics and epigenetics:
    This was mainly about improving the quality of diagnosis in FSHD.
  • Pathology and disease mechanisms:
    The presentations showed how specific aspects of disease progression in early laboratory research influence the activity of DUX4.
  • Intervention strategies:
    The presentations discussed how different treatment methods (gene therapy, gene modification, antisense oligonucleotides) are investigated in laboratory research. A very interesting presentation by Lindsay Wallace (Scott-Harper-Lab), who reported on RNAi-based gene therapy for FSHD (the aim is to switch off DUX4), should be highlighted here, as it describes conclusive results in cells and mice and the first clinical studies are planned to start in 1-2 years (see
  • Clinical trials:
    In addition to various presentations on FSHD using data from the UK FSHD patient registry (see also and a presentation on the possible link between inheritance of FSHD within the family and the severity of the disease, various representatives from the pharmaceutical and other industries spoke. MiRecule, whose CEO Jonathan Saleh is himself suffering from FSHD, is developing an RNA-based therapy for FSHD, but it will take a few more years from laboratory research to the start of clinical trials.
    Acceleron Pharma presented the lessons learned from the Phase II study of ACE-083 (a drug to increase muscle strength and growth), which showed no benefit in FSHD.
    Fulcrum Therapeutics reported on its clinical trials with Losmapimod for FSHD, how the study protocol had to be modified due to Covid-19, and stated that the results will be published in early 2021.

FSHD Connect Classroom (FSHD Society Patient Day) – 27 June
FSHD Connect Classroom is an annual event for members of the FSHD Society, their relatives and interested parties from all over the world. In addition to patient-oriented lectures on various topics related to FSHD, presentations of various health aids and possibilities for improving the quality of life in one’s own apartment/house, people affected by FSHD have the opportunity to ask questions and exchange ideas in various discussion groups.
In addition to 3 very well explained, simplified and pictorial presentations on FSHD, the disease including diagnosis and treatment options by Dr. Matt Harms, Dr. Nick Johnson and Dr. Christopher Graham, Dr. Scott Harper, Dr. Anthony Saleh and Dr. Michelle Mellion (Fulcrum) presented their current state of research on gene therapy, siRNA therapy and the current clinical study with Fulcrum’s Losmapimod.
Allard USA, a manufacturer of orthotics, presented various models for FSHD patients for lower legs and feet, followed by Karen Pitsley who spoke about the variety of minor and major adjustments in the home to improve the quality of life for people with FSHD and their families.
A sensitive but also very important topic for many people suffering from FSHD, the mental aspect of progressive muscle disease, was addressed and the so-called ACTmus test developed in this context was presented (see

Voice of the Patient Forum – 29 June 2020
The goal of this meeting was to gather as many testimonies as possible from people with FSHD, their families, relatives and friends and then submit them to the FDA. With their experiences, challenges and difficulties, both physical and psychological, the aim is to ensure that the FDA will speed up the approval process of any future drug, therapy or cure and thus provide FSHD patients with access as soon as possible.
More than 600 people from all over the world, mainly from the USA, participated in the moderated livestream.
With interactive online surveys (questions like: Do you have a genetic diagnosis? Which symptom affects you the most? Which of the following aspects impairs it most in everyday life?), recorded videos of patients, their relatives and the possibility to be added live by telephone, a great many people took part.
Due to the topic, the explanations and statements of the participants were very moving, emotional and clearly showed that a rare and even progressive muscle disease like FSHD causes a lot of difficulties, constantly changes the everyday life and the environment and it is therefore immensely important that if a drug or cure is found, it must be approved by the responsible authorities as quickly as possible and it must be ensured that everyone with FSHD has access to it.