FSHD European Trial Network (FSHD ETN) Newsletter 3 – March 2023

                                         

Newsletter 3 – March 2023

The FSHD ETN is pleased to send you this newsletter to update you on the steps taken and to look forward to strengthen our collaboration in 2023.

Update of the WG activities:

Working group	Chairs	Activities
1. Clinical and genetic diagnosis	Richard Lemmers (NL) Emiliano Giardina (IT)	ENMC workshop Sept – Oct 2022 (Lay report on ENMC website) Update of consensus of genetic testing
2. Clinical outcome measures	Federica Montagnese (GE) Karlien Mul (NL)	ENMC workshop Sept – Oct 2022 (Lay report on ENMC website) Assessing and extending the available FSHD diagnostic, clinical and trial services
3. Biomarkers	Julie Dumonceaux (UK) Yann Peron (F)	ENMC workshop Sept – Oct 2022 (Lay report on ENMC website)
4. Muscle imaging	Giorgio Tasca (UK/IT) Mauro Monforte (IT)	ENMC workshop April 2022 (Report published in NMD; lay report on ENMC website) Reached so far: We have indeed established a stable connection with the FSHD CTRN imaging working group, and we set up shared meetings with them and periodic discussions with Seth Friedman and Jeff Statland on how to move forward together Aims for the next year:  Giorgio Tasca, Mauro Monforte and Hermien Kan plan to start the meta-analysis of published data and data in progress of publication presented at the meeting. The first step will be an ethical approval for anonymized data sharing.

Other news:

• FSHD ETN together with FSHD society and EURO-NMD is preparing an update of the international standard of care.
  By using a standard evidence-based approach, based on the Dutch FSHD guideline, the goal is to help neurologists and other physicians to understand how to confirm the diagnosis of FSHD and guide standardised patient care and treatment plans, which are needed since there are many trials expected to roll out in the upcoming years. The guideline will provide both literature and consensus-based recommendations on important care topics such as managing pulmonary and sleep impairment, cardiac abnormalities, functional impairments like muscle weakness and nutrition, surgery, swallow and communication difficulties, retinal disease, hearing loss, mental health, and managing pain and fatigue. For each of these topics, a working group has been set up with experts in the field of FSHD, and together with the literature researchers and the support of the FSHD society, the guideline is formed. The guideline is expected to be completed by the end of 2023.
  More information can be found here: Extraordinary Measures – Updating the standard of care for FSHD | FSHD Society

• The FSHD patient survey has been finalized and submitted to a scientific journal. We will submit an abstract to the FSHD IRC in June 2023 in Milan. A summary can be found here: FSHD European Patient Survey

• FSHD Europe, the FSHD ETN collaborates with FSHD Society in the organisation of the 2023 FSHD IRC in Milan.
  World renowned clinicians, medical researchers, pharmaceutical industry leaders and basic scientists present and discuss new developments, reinforce collaborative efforts, facilitate new initiatives, and coordinate research and clinical activities. With the recent advances in FSHD research and clinical advances, this conference has become catalytic in translating ideas into potential therapies. The conference will be held in-person and virtually June 15-16, 8: 00 am- 5:00 pm CET.
  More information can be found here: 30th Annual FSHD Society Int’l Research Congress
  
• In 2022, Fulcrum has initated the Phase 3 Trial (REACH). The randomized, double-blind, placebo-controlled Phase 3 trial, called REACH, will enroll approximately 230 adults at over 30 sites in the US, Canada, and Europe. The trial is designed to support the US FDA and European Medicines Agency (EMA) regulatory applications of Losmapimod for the treatment of FSHD. If approved, Losmapimod would be the first and only therapy for the disease.
  More information can be found here: Fulcrum Therapeutics Phase 3 Trial (REACH)

• The Communication team of FSHD Europe / FSHD ETN is continuously working to improve the quality of the website. You can contact Bine Haase with any comments or suggestions: bine@fshd-europe.info

• We are currently preparing an application for a project manager for FSHD Europe and the FSHD ETN. We aim to submit this at the end of March 2023.

• We aim to have open membership, and aim to involve experts from all European countries. We are very pleased that Piraye Oflazer from Istanbul (Turkey) and Nurit Birman from Tel Aviv (Israel) are now involved. Piraye is invited for the organizing committee of the FSHD IRC!
  You might be contacted by clinicians or researchers in your country who are interested, or know (future) FSHD experts in European countries not yet involved in the ETN. Please refer them to Nicol Voermans (nicol.voermans@radboudumc.nl).

• Enrico Bugiardini (UK) and Valeria Sansone co-chair the FSHD Taskforce in TREAT NMD. TREAT-NMD is focusing on the harmonisation of registries worldwide and on training for professionals.
  For training, TREAT-NMD aims to collaborate with the FSHD Society who has organized a masterclass.
  
  You can sign up for the TREAT-NMD newsletter here: https://treat-nmd.org/news-events/newsletter-signup/

Best wishes,
The FSHD ETN Executive committee
Teresinha Evangelista, Pascal Laforêt, Alexander Mejat,
María Vriens – Muñoz Bravo, Valeria Sansone and Nicol Voermans
and the chairs of the WG 1,2,3 and 4

For questions: nicol.voermans@radboudumc.nl