The annual FSHD International Research Congress (IRC) - organized by FSHD Society in Florida - is the world's premier conference focusing on facioscapulohumeral muscular dystrophy research. Clinicians, researchers, pharmaceutical industry leaders and basic scientists speeches about new developments, launch new activities and coordinate research and clinical activities.

On June 16-17, researchers gathered for sharing and discussing the latest scientific findings on FSHD. The IRC covers a broad span of research including genetics, epigenetics, pathobiology, novel drug targets, outcome measures, and clinical trials. The Society’s leadership has contributed to notable advances, including the discovery of the genetic mechanism of FSHD, identification of therapeutic targets, and several clinical trials including the phase 3 trial that will be activating within the coming month.

The IRC was followed on June 18-19 by FSHD Connect, the Society’s biennial global conference bringing together patients, family members, researchers, and clinicians for two days of education, advocacy, and networking.

UILDM’S FHSD Group interviewed June Kinoshita, Director of Research and Patient Engagement of FSHD Society.

 

What are the most exciting news about FSHD research from 2022 International Research Congress?

The big news is that Fulcrum Therapeutics has launched its phase 3 trial of Losmapimod. It will take place at 32 sites internationally, including 3 in Italy. To receive alerts about when the Italian sites are open, please sign up at the FSHD Society’s Italian patients’ portal.  Researchers from the laboratory of Davide Gabellini presented data on novel therapeutics based on the activity of DEBET and MATRIN3. Mitsuru Sasaki-Honda received the best poster prize for a “hit and run” D4Z4 methylation system to inhibit DUX4 expression periodically as needed. Dr. Sasaki is affected by FSHD himself. He also received the AMRA travel scholarship this year. Nizar Saad presented work using extracellular vesicles derived from mesenchymal stem cells (MSCs) to reduce DUX4-induced damage in mouse muscles. Avidity Biosciences presented very encouraging data on their small inhibitory RNA (siRNA), which fully protected mouse muscles when injected 2 weeks prior to DUX4 expression in this mouse model. This year’s meeting was also notable for the large number of companies attending.

 

Which are the key strategies that FSHD Society wants to deploy to accelerate the finding of a cure during the next three years? And how patients can bring an effective contribution?

The FSHD Society’s key strategy is to increase the number of patients who are active and engaged through the Society’s patient database. It is very important that each unique person register their name, status as a patient, and location so that they will receive an email when a clinical study or trial in their area is seeking patient volunteers.

 

It's great that Italian FSHD patients can register into our data collection so to be up-to-date on what's hot in the FSHD space. Can you tell us more about this collaboration with UILDM?

The FSHD Society is collaborating with UILDM to enable the registration of patients in Italy through a special Italian-language landing page. We will also be collaborating to send email communications to Italian patients about clinical trials and other important news.

 

What are some other areas for collaboration?

We are carrying out a health economics study of FSHD in the USA to understand the true cost of living with FSHD. We encourage all countries to do the same because it is important for the government and health care system to understand the cost. This will determine their willingness to pay for future treatments. The FSHD Society is sharing its health economics study tools to other patient advocacy organizations.

 

To stay up to date on FSHD Society activities, you can fill out this form and join the community!

The form is also accessible from the QR Code below.