New publication: 237th ENMC international workshop: GNE myopathy – current and future research

In the 237th workshop convened by the European Neuromuscular Center (ENMC), clinical experts, researchers and patient representatives came together from around the world to discuss the latest findings and the way forward in research and care in GNE myopathy. The workshop was held in September 2018 and led by Drs Pogoryelova, Argov, Urtizberea, Nishino and Lochmüller. GNE myopathy is a genetic muscle disorder that starts with foot drop and the correct diagnosis is often missed for years. While the underlying genetic cause is well understood, further research is required to identify the disease mechanism and to develop better treatments. Workshop participants reviewed the current medical and scientific knowledge relevant to GNE myopathy to achieve a better understanding of its epidemiology, phenotype and genetics. They agreed on a standard of care (SOC) for GNE myopathy patients, discussed the strengths and weaknesses of the currently available animal models, discussed the outcomes of recent trials, reviewed the outcome measures used, and other potential treatments for the condition, and attempted to improve their understanding of the biochemical consequences of the GNE defect on muscle tissue leading to muscle damage and weakness.

The workshop report has been accepted for publication in the Neuromuscular Disorders journal and has been released as an accepted manuscript. After the final version is released it will become available as open access; in the meantime those with access to the journal can download it from the journal website and others with an interest are invited to contact the authors or the ENMC.

Oksana Pogoryelova, J. Andoni Urtizberea, Zohar Argov, Ichizo Nishino , Hanns Lochmüller, on behalf of the ENMC workshop study group, 237th ENMC International Workshop: GNE myopathy current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscular Disorders (2019). DOI: 10.1016/j.nmd.2019.02.010

Highlights:

  • Agreement on ways to promote GNE myopathy animal model development
  • Recommendations for further biomarker and biochemical pathways studies
  • Initial Standards of care (SOC) document for GNE myopathy patients
  • Recommended items for data collection in patient registries
  • Recommended format for reporting new variants in the GNE gene
Participants at the 237th ENMC workshop on GNE myopathy

Read next...

New Publication: Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

We were pleased to collaborate with colleagues in the UK, India, Germany, and Spain on this brief communication reporting three…

Conference Announcement: MITO2019 in Toronto 8-9th Nov

MITO2019 is the annual meeting for mitoNET and the MitoCanada Foundation and serves as the main education & networking event…

A new arrival accompanied by a new publication

The Lochmüller lab is pleased to welcome Dr. Emily O’Connor to the group in Ottawa. Emily marked her arrival in…

New Publication: Analysis of the functional capacity outcome measures for myotonic dystrophy

Being able to accurately and reliably asses functional capacity in people with myotonic dystrophy type 1 (DM1) is paramount to…

Foundation grant success for the Lochmüller Lab!

We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD) has been funded…

New publication: De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Patients with long-term, complex conditions like neuromuscular diseases may receive diagnosis, care and treatment in several different centres, each of…

New publication: Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

How can we use phenotypic descriptions to aid genetic diagnosis starting with hundreds of rare variants from next-generation sequencing results?…