The FSH Society annual International Research Congress was held in Marseille, France, on 19-20 June 2019. MDUK was delighted to support and attend the conference, which provided an opportunity to bring the international research community together to share their research and expertise on fascioscapulohumeral muscular dystrophy (FSHD).
This was the first time the meeting was held in Europe and saw a record number of attendees. Nearly 200 researchers, clinicians, industry representatives and patient advocates met to present and discuss the latest developments in FSHD research.
Over the two days, talks were given across a wide range of topics, with sessions on:
- The patient’s perspective on FSHD
- The clinical symptoms of FSHD
- The genetics of FSHD
- Understanding the molecular mechanisms of FSHD
- Understanding the role of epigenetics (external modifications to the DNA which can turn genes on and off) in FSHD
- FSHD model systems
- Muscle pathology and imaging methods to study the muscles (such as MRI and ultrasound)
- Natural history studies and registries
- Therapeutic studies
- Outcome measures and clinical trial readiness
There were interesting talks on molecular mechanisms that could contribute to FSHD. This included research investigating the role of hormones, the immune response and oxidative stress (an imbalance of a form of oxygen molecules, called free radicals, and antioxidants in the body) in FSHD.
The therapeutic studies session highlighted promising potential treatments that are in development and included clinical trial updates:
- Dr Jeffrey Statland reported on Acceleron Pharma’s ACE-083, which is currently being tested in a Phase II clinical trial in the United States. ACE-083 aims to build muscle mass and improve muscle strength. Overall the drug has been well-tolerated by participants. Recruitment for participants in the trial has now been completed and the collection of data is expected to end in summer 2019.
- Fulcrum Therapeutics presented on its FSHD drug, losmapimod, and the process through which it was identified as a potential treatment for this condition.
There were also important presentations on outcome measures for clinical trials. Outcome measures are methods that are used to measure the symptoms of a condition and are crucial for testing if a treatment is having an effect or not. Outcome measures need to be sensitive to small changes in symptoms and meaningful to people with FSHD. Researchers are currently developing methods to measure changes in the arm muscles, as well as improved questionnaires to more accurately assess quality of life.
The conference also included poster sessions, where it was great to see MDUK-funded researchers showcasing their work:
- Camilla Farnetani, PhD student in Robert Knight’s lab, presented their work on understanding how DUX4 affects muscle regeneration in FSHD.
- Ben Porter, the UK FSHD registry curator, gave an overview of the registry and its activities. You can find out more in the latest registry newsletter.
You can read more about the conference in the FSH Society’s conference report.