Highlights from international myotonic dystrophy conference

Published Date
22/07/2019
Author
Jenny Sharpe
Category
Research

Our Research Communications Manager, Dr Jenny Sharpe, recently attended the twelfth meeting of the International Myotonic Dystrophy Consortium (IDMC) in Gothenburg, Sweden. This meeting is usually held every two years and is attended by leading scientists and clinicians from around the world.

There were talks and posters on a range of topics, including genetics, care guidelines, quality of life and the development of treatments. It was great to see lots of patient advocates and researchers from the UK in attendance. Dr Monika Magon gave a talk on her MDUK-funded project investigating molecular changes in cells affected by myotonic dystrophy type 1 (DM1). Dr Cecilia Jimenez Moreno also had a poster on the PREFER study, which will start recruiting in October.

Dr Mark Hamilton also presented some results from the Scottish Neuro-DM1 study, which was supported by MDUK and Chief Scientist Office through a clinical fellowship. The study showed that the majority of participants had problems with breathing during sleep and this was associated with a loss of brain tissue called white matter. These findings highlight the importance of a proactive approach to respiratory management in DM1.

It was really positive to see so many pharmaceutical companies represented at the IDMC meeting, including Ionis Pharmaceuticals, AMO Pharma, Dyne Therapeutics, Lupin Neurosciences, ARTHEx Biotech, Sarepta Therapeutics and Sanofi Genzyme. A lot of different approaches are being investigated as possible treatments for myotonic dystrophy, including molecular patches (also called antisense oligonucleotides), genome editing and small molecules like tideglusib and mexiletine. You can find a summary of therapies in preclinical and clinical development below:

Dr Arnaud Klein from the University of Sorbonne, Paris, spoke about his collaboration with MDUK-funded researcher Professor Matthew Wood, who has developed peptide-linked molecular patches for DM1. Molecular patches aren’t very good at getting into cells within the body (this was a key learning from Ionis’ failed clinical trial a few years ago). But linking them to protein fragments called peptides has been shown to greatly improve delivery. Dr Klein reported that the peptide-linked molecular patches were showing positive results in mouse models of DM1. Splicing defects were corrected in the treated mice and myotonia was also reduced.

The IDMC programme also featured a workshop on the classification of DM1. DM1 is classified according to the age that symptoms started (age of onset) but currently these ages are not well defined. For this reason, clinicians have proposed a new, hopefully clearer classification system:

  • Congenital DM1: symptoms start before one month of age
  • Paediatric DM1: symptoms start between one month – 18 years
  • Adult DM1: symptoms start between 18-40 years
  • Late onset DM1: symptoms start after 40 years old

If you have any questions about this report or any other myotonic dystrophy research, please contact the MDUK Research Line on 020 7803 4813 or email research@musculardystrophyuk.org.

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