Facioscapulohumeral muscular dystrophy (FSHD) Connect Conference Report

Published Date
Dr Ngoc Lu-Nguyen

The FSH Society held its annual two part conference in Boston, USA from 10 November to 12 November 2016. Research Connect, the FSH Society’s 22nd international scientific conference was followed by Patient Connect, in which the conference opened its doors to people with FSHD and their families. Muscular Dystrophy UK was one of the sponsors of the conference.

Muscular Dystrophy UK-funded researcher, Dr Ngoc Lu-Nguyen works on a project in the laboratory of Dr Linda Popplewell and Professor George Dickson at Royal Holloway, University of London. Dr Lu-Nguyen is researching the development of molecular patches as a potential treatment for FSHD. She attended Research Connect and reports here on recent progress in FSHD research, current obstacles and the research and clinical priorities going forward.

Research Connect

The Research Connect meeting brought together clinicians, scientists, industry and patient representatives to present and discuss the latest developments in FSHD research. On the first day there were presentations from worldwide leading scientists focusing on four topics:

  1. The genetic basis and modifications to the DNA which may result in FSHD.
  2. Molecular mechanisms underlying the symptoms of the condition.
  3. FSHD model systems.
  4. Clinical trials and therapeutic studies.

An important point stressed was that, whilst significant progress has been made, there is still a lack of understanding of the mechanisms behind the pathology of the condition and variation in the severity of symptoms experienced by people with FSHD.

All of the talks and posters highlighted the advances that are being made in our understanding of FSHD and potential treatments. aTyr Pharma Inc. reported on their phase 1b/2a safety clinical trial of ATYR1940, a molecule that is being investigated as a potential anti-inflammatory drug in muscles. Acceleron Pharma reported on the development of ACE-083, a potential treatment for the loss of muscle strength and muscle function. The company is now recruiting participants for a phase 2 study in the US. Additional therapeutic strategies and the development of cell and animal models that better reflect FSHD were also presented. Among these, the use of small RNA molecules to inhibit expression of the faulty DUX4 protein showed encouraging results in mouse models of FSHD. Researchers from the laboratory of Dr Scott Harper at The Research Institute at Nationwide Children’s Hospital (USA) are collecting additional data on the safety and efficacy of the treatment in mouse models with the aim of translating this work into clinical trials in the near future.

On day two, all attendees gathered to summarise the current position of the field and to prioritise the critical areas of research going forward. A number of specific issues were raised, including the importance of cell and animal models that can mimic stages of the condition. These models are urgently required to improve the understanding of the pathology and the mechanism of FSHD and to enable testing therapeutic approaches. The development of biomarkers, natural history studies and outcome measures were also evaluated and discussed.

Patient Connect

Dr Jenny Versnel, Muscular Dystrophy UK’s Director of Research and Business Innovation, attended the scientific meeting and the Patient Connect Conference. Patient Connect provided people with FSHD and their families the opportunity to receive an update on the latest research. There were also a number of interactive workshops covering topics such as: physical therapy and exercise, respiratory health, managing pain and chronic fatigue, information for the newly diagnosed and mildly affected and pregnancy and women’s health.

After attending the meeting Jenny Versnel said:

A lot of progress has been made in our understanding of the genetic causes of FSHD and how these contribute to the symptoms. This has in turn paved the way to identify therapeutic strategies and it is encouraging to see increasing interest from biotechnology and pharmaceutical companies. This conference highlights the importance of sharing data and collaborating internationally to accelerate progress towards treatments for FSHD.

Further Information

For the full conference programme and slides/videos, visit the FSH Society website

Read our factsheet on FSHD

Read more about research progress in FSHD.

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