New research initiative for nemaline myopathy

Published Date
Dr Özge Özkaya

Muscular Dystrophy UK brought together researchers and clinicians from all over the world for a one day workshop to review the field of nemaline myopathy. The aim was to describe strategic areas for an international grant call, launched today, to drive forward the development of treatments.

From the discussions on the day, the researchers established the following four strategic areas most worthy and important for the nemaline myopathy field:

  • Establishment of international clinical/genetic databases for all forms of nemaline myopathy.
  • Improving the diagnosis of nebulin-related nemaline myopathy
  • Better understanding of the causes of nebulin-related nemaline myopathy
  • Developing first potential treatments for nebulin-related nemaline myopathy

With a focus on these four main areas, Muscular Dystrophy UK today launched an international grant call into nebulin-related nemaline research in order to drive forward the development of treatments for this condition. The grant call has been made possible thanks to the generous support of MAP Nemaline, a family fund set up to help fund research into this very rare condition.

Charles Park who set up MAP Nemaline for his seven year old daughter said about the workshop:

It was a privilege to meet so many great minds brought together from so many countries and in the true spirit of collaboration. Research into nemaline myopathy is at an early stage but the research areas are now defined and we look forward to seeing the results of the grant application.

Nemaline myopathy is a very rare group of conditions with less than 50 affected people in the UK. It is extremely variable and not yet well understood. Although there are several genes that are known to cause the condition most people living with the condition carry a mutation in a gene called nebulin.

There are only a handful of scientists worldwide who undertake research in this area, and they are only now just starting to understand the role the mutated gene plays in causing the muscles not to function properly.

One of the charity’s aims is to facilitate communication and collaboration of the scientific community worldwide to ensure the researchers can share their knowledge and expertise. We therefore organised this one day workshop to bring together international experts to review the field of research into nemaline myopathy. The researchers were asked to identify areas where they felt that an investment would make a real difference in moving the field closer to better understand the underlying causes of nemaline myopathy and to ultimately develop potential treatments.

The day began with a welcome and an overview of the charity’s research program by Dr Marita Pohlschmidt, Director of Research at Muscular Dystrophy UK. She was joined by Prof Caroline Sewry and Dr Heinz Jungbluth from London and Dr Carina Wallgren-Pettersson from Helsinki who also helped to coordinate the day.

Dr Marita Pohlschmidt said:

It was a real pleasure to see the researchers sharing their latest results and discussing where the field currently stands. My hope is that they used the day as an opportunity to set up collaborations to together carry out research that will move us step closer to finding treatments for this very rare and complex condition.

Although the topics of the presentations were to broadly cover all types of nemaline myopathy, the spotlight was placed on nemaline myopathy, caused by mutations in the nebuline gene. Each workshop participant presented the results of their own research, detailed their future plans and shared ideas of how to move the field forward most efficiently.

It became quickly apparent that the large size and complex structure of the nebulin gene presents a huge challenge for providing patients with a precise diagnosis. Sophisticated technology is currently being developed by the team in Finland and the group discussed how this technology can be made available to other countries. This topic then fuelled much discussion about the importance of global patient registries and clinical databases. Everybody around the table agreed that this certainly is an area that requires special attention.

Researchers from the US and Australia presented results from their studies on animal models such as mouse and zebrafish to better understand the role of nebuline in the muscle. The potential therapeutic benefit of certain small molecules and first attempts at developing genome editing technology to treat the condition were also discussed.

Dr Kristen Nowak, a researcher from Perth, Australia said:

The workshop was highly beneficial, as it allowed experts in the field to collectively overview and assess the current state of play for nemaline myopathy research, highlight hurdles being faced on multiple levels, and then decide on the biggest and most worthwhile goals for the shorter to medium term.

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