FSH Society meeting

December 12, 2019 By Bine Haase

 (June 8-10, Las Vegas, USA)

The FSH Society meeting in Las Vegas this year consisted of two separate meetings:

  1. International Research Congress & Research Planning June 8-9th (mainly for doctors and researchers)
  2. The FSH Society’s International Network Meeting for FSHD Families, Clinicians, and Researchers (mainly for patients and their families)

The conference was attended by 150 clinicians and researchers and 250 patients

I attended both meetings. During the first meeting doctors, researchers and representatives of pharmaceutical / biotech companies from all over the world presented the latest news in genetic research and therapy developments for FSHD.  Though (I have to admit) the genetic part was difficult for me to understand, I got one thing clear: there is a lot going on, new facts about the genetic mechanism are being discovered, new projects are being funded.  Special attention is being paid to develop a better understanding of the role of DUX4 in humans, discovering additional factors that influence the course of the disease and (very important in view of up-coming clinical trials!) determining clinical outcomes measures that can be used in the future to evaluate the effectiveness of potential therapies.  A few pharmaceutical and biotech companies also made presentations. The information presented is confidential but I can say that we are likely to have several interesting clinical trials, possibly in the next year!

The second meeting was more for the patients and the presentations were adapted for people without a medical or research background. There were a number of very good presentations, and in particular they spoke about Dux4, the gene that’s been identified as the culprit for FSHD. There is now much competition amongst the researchers to find a way to switch off Dux4, and stop the process that kills muscle cells. It seems that they are almost at the door for a cure, but just need to find the right key to open it. There was also a presentation about latest developments in robotic mobilisation devices: a promising line of research that can potentially offer significant improvements in mobility for FSHD patients (among others).

Mark Stone, the president and CEO of the FSH society, spoke about having a dream that this disease will be a thing of the past. He also said that he could see a cure being available by 2025. His final remarks were that an individual can make a difference but a team can make a miracle.

Rabi Tawil, professor of neurology at the university of Rochester Medical Center, presented Evidence-Based FSHD Care Guidelines that are used in USA at the moment for doctors and patients. He also mentioned that new Guidelines are being developed. I took this opportunity to share with him the information about the Guidelines that have been just published in the Netherlands. We are having them translated into English and hopefully will have them published on the FSHD Europe website this year. I also mentioned this to several other representatives of the FSH Society and they were all interested in seeing it once it is available.

All of the researchers and doctors were all so helpful in answering any questions the attendees had and they were also very interested in everyone’s individual struggles with the illness, and how they were coping.

I found the conference very inspiring and wouldn’t hesitate about attending another one.