A report from our second annual meeting

Key network stakeholders and those interested in our network's progress and future plans met for our second annual meeting in Prague, Czech Republic.

Before the start of the meeting itself members from each of our specialised working groups had a chance to meet in person, to discuss issues and future plans and also to build upon those all important working relationships.

The first session of the main meeting was entitled "What's new in the field of NMD" and touched upon the diagnosis of CMS, treatment opportunities for both neuropathies and mitochondrial diseases as well patient trial selection in clinical trials.

The second session featured six specific patient case. Similar to our CPMS but with people physically present, anonymised patient information was discussed with delegates in an attempt to move forward with regards to potential diagnosis and/or treatment.

Session three began on the second day with a further look at the very latest news in the neuromuscular field. This included a presentation of the results of our recent genetic testing survey. The challenges and chances for neuromuscular diseases in MR Neurography and the role of electrophsiology in the diangnosis of Guillain-Barré disease followed. The session finished with a look at new immunohistochemical techiniques for routine muscle biospy diagnostics.

Session four, "From Bench to Bedside" took delegates from the re-analysis of omics data though to non-invasive diagnosis and on to E-health and the new perspectives in research.

The final session of the meeting was called, "From ethics to education and the PAB (Patient Advisory Board) views." This final session focussed on the PAB perspective for EURO-NMD, the ethics within the network and concluded with a presentation on education.

A practical CPMS demonstration was given and hands-on one-to-one help was available at times throughout the meeting. 

We were delighted with the range and depth of discussions throughout the two day meeting and hope attendees found their time in Prague was beneficial.

If you would like to find out more about the meeting and who the speakers were, you can still download an archive of the agenda.

Using the Clinical Patient Management System (CPMS)

The Clinical Patient Management System (CPMS) is a web-based clinical software application providing a secure platform which aims to support ERNs in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe.

To ensure the CPMS delivers the maximum positive impact possible for those in the neuromuscular community we have developed a simple 'how to' guide which we hope will answer many of the questions that may arise when first using the system.

We also have a set up a dedicated helpdesk to address any issues that may arise. So, if you have any questions about accessing or using the CPMS please send them to support@ern-euro-nmd.eu

Theme for Rare Disease Day 2019 announced!

The theme for Rare Disease Day 2019 is 'Bridging health and social care'.

For most people living with a rare disease, as well as their family members or carers, the reality of daily life can include any combination of the following: collecting and taking medicines, attending appointments, participating in physical therapy, using specialist equipment and accessing various social and community support services and respite care. Managing these care-related tasks alongside their usual daily activities such as work, school and leisure time can be challenging.

Mitochondrial medicine 30 years on: state of the art

Mitochondrial diseases are an important group of inherited metabolic disorders affecting children and adults, with an extremely wide range of clinical symptoms and an ever increasing number of genetic causes.

This three day training course which begins on 11th April in Nice, France. The €450 course fees cover all course materials, food and accommodation ofr two nights. Registration deadline is 1st March 2019.

First Indian centre for children with neuromuscular diseases opens in Bangalore

Bangalore Baptist Hospital in association with ORDI – Organization For Rare Diseases, India, inaugurated India’s very first Paediatric Neuromuscular Service, simply called “The Muscle and Nerve Clinic”.

This specialty service has a range of specialists who have come together to provide care for patients who suffer from these rare diseases that affects the muscle and nerves, thus causing weakness.

This service was set up with the goal of providing holistic and multidisciplinary care and treatment under one roof, for children and families with these rare group of disorders, who often need support from multiple experts in various specialities. In other words, the aim is to do away with the typical phenomenon that families with rare diseases end up going through, that of having to run from pillar to post, in their quest for appropriate solutions.

Best wishes for Christmas and the New Year

This is our final newsletter of 2018 and we would like to take this opportunity to wish you all a very Happy Christmas!

We would also like to thank everyone involve in our network for their hard work thoughout 2018.

We really enjoyed meeting many of you in Prague and look forward to working with you in 2019. We would also like to say a fond farewell to Joanna Das who has made such a difference to the network over the last year and wish her all the very best in her new position.

All the very best for the coming New Year,
EURO-NMD Secretariat