Guidelines, gap analysis and new connections

Updates from the specialist disease groups:

Muscle

The gap analysis of the guidelines is well underway, with recent diagnosis and management guidelines in place for FSHD, LGMD’s, CMD DM1 and DM2 care guidelines are also plain preparation for these diseases) . Further guidelines for DM1, DM2 and IBM are in progress.

The muscle working group's research identified that no guidelines exist for MFM or the Idiopathic inflammatory myopathies.

The muscle group has also identified cross over with two other ERNs and is working in collaboration with MetabERN (metabolic) and Re-CONNECT (connective tissue and musculoskeletal diseases) to identify common aims and activities. 

Neuromuscular junction

The Gap analysis for NMJ revealed a lack of (or incomplete) guidelines for congenital myasthenic syndromes and paediatric MG. However, there are a number of guidelines in place for adult MG in French, Italian and English, including a recent American version.

The group have organised a face-to-face meeting to take place during the EURO-NMD Conference, and intend to prepare an interesting NMJ case to present. 

Mitochondrial disease

The group’s review of current literature found five recent guidelines for mitochondrial diseases including those on care, data elements, diagnosis and outcome measures.

Neuropathy

The Neuropathy group held its first face-to-face meeting at the Peripheral Nerve Society meeting in July.  A questionnaire was agreed for care guidelines, which has been sent to all centres. Following the results of this survey a guideline registry will be developed.

Motor neuron disease

This specialist working group is further subdivided into:

• Amyotrophic lateral sclerosis (ALS) and related conditions
• SMA and related conditions

Work is ongoing to map expertise in these two areas.

There is a great deal of activity in SMA due to approval of the first drug Spinraza (nusinersen).  The revised standards of care for SMA have now been submitted for publication.

What have the cross cutting working groups been up to?

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Neurophysiology

Using the data provided by the 61 HCP’s during the application process the group are carrying out research into the standardisation of neurophysiological practice. The group are also creating links between the transversal working groups by appointing members from each of the five disease working groups. The group is also seeking more expert members.

Genetics

The working group has been in regular contact and will be meeting in person at the upcoming WMS meeting. The group aims to revise the genetic diagnostic guidelines and forge strong links with RD-connect for data sharing (of both genotypic and phenotypic data).

The group is currently drafting a questionnaire. The goal is to share the questionnaire with other related ERN’s, such as Epicare.

Imaging

Monthly case reviews are taking place between the leads of the imaging group. The working group is updating the existing standard operating procedures for muscle NMR imaging. Future plans include a hands on workshop and training school using existing Myo-MRI and Paris IOM initiatives.

Neuropathology

A survey of the methodological practices and activity numbers among the 61 HCP’s is ongoing with around a 50% response rate so far. The inventory will be completed by the end of this year.

Following this, guidelines for minimal basic methodology and recommendations for standard and extended practice will be developed in 2018. These will include recommendations around reporting.

Neuromuscular Translational Summer School

 Save the date! 2-6^th July 2018

This joint venture between TREAT-NMD and EURO-NMD will address the following translational research aspects:

• Bench to bedside research
• Regulatory system
• Clinical trials
• Outcome measures
• Patient communication
• Registries and biobanks
• Biomarkers and –omics.

Lasting five days, the Summer School will be held at the Institute of Genetic Medicine at the University of Newcastle upon Tyne. This comprehensive course will serve as a superb foundation for those wanting to direct their medical or research career in the direction of neuromuscular diseases.

Further details and agenda will be available soon.