The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency, have recommended the granting of a marketing authorization in the European Union (EU) for Spinraza (nusinersen) to treat patients with spinal muscular atrophy (SMA).

SMA is a rare and often fatal genetic disease that causes muscle weakness and progressive loss of movement. The disease affects the motor neurons (nerves from the brain and spinal cord that control muscle movements). Patients usually lack a protein called survival motor neurons (SMN) and without this protein, the motor neurons deteriorate and eventually die. Therefore, this causes the muscles to fall into disuse leading to muscle wasting (atrophy) and weakness.

The SMN protein consists of two genes, the SMN1 and SMN2 genes. Most patients with SMA lack the SMN1 gene but have the SMN2 gene, which mostly produces a 'short' SMN protein which cannot work properly on its own. Spinraza is an 'anti-sense oligonucleotide' medicine. It is expected to make the SMN2 gene produce adequate levels of the SMN protein of normal length, further increasing the survival of motor neurons. Spinraza is to be given by lumbar puncture injection into the fluid surrounding the spinal cord once every four months.

At present, there is no approved therapy in the EU for the treatment of SMA and currently patients receive supportive treatments to help them and their families cope with the symptoms of the disease. These supportive treatments include chest physiotherapy and physical aids to support muscular function, and mechanical ventilators to help with breathing, but there still remains a significant unmet medical need for these patients.

The recommendation adopted by the CHMP will now be sent to the European Commission for the adoption of a decision on EU-wide marketing authorisation.

To read the full article, click here.

The 5th International TREAT-NMD Conference is taking place between the 27 - 29th November in the beautiful city of Freiburg.

The early bird rates for registration will end on the 31st May, so to take advantage of this reduced rate click here to register.

We're also now pleased to announce that all registration places are eligible for a free place at the Gala Dinner.

Sponsorship and exhibiting opportunities are still available - to find out more please visit our sponsorship page or contact Anne Oyewole.

The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its seventh newsletter in a range of languages which are available to view online or to download at the GNEM Registry website or on the TREAT-NMD website.

The newsletter is used as a way of informing patients and families, as well as doctors, about what is going on with the registry as well as containing updates from the study partner on anything else related to GNE myopathy.

Available Languages: Arabic, Bulgarian, Chinese, Dutch, English, Farsi, French, German, Hebrew, Italian, Korean, Portuguese, Spanish, Turkish

This seventh issue contains the following articles

• GNEM-DMP Registry update and participation overview
• Use of orthotics in neuromuscular diseases
• GNE myopathy international - overview of activities
• Autosomal recessive inheritance and GNE myopathy
• 10 tips for family & caregivers
• Mona Patel - my story so far

For more information on the GNEM-DMP Registry please visit or email

Research conducted at the Institute of Neurology of University College London (UCL) and a publication in the Proceedings of the National Academy of Sciences USA has identified a set of novel therapeutic targets for a subtype of Charcot-Marie-Tooth disease (CMT), a human condition that currently has no effective treatments. Surprisingly, the scientists also uncovered a previously unappreciated developmental element to this peripheral neuropathy, which has important implications for the timing of treatments.

CMT is a genetic disorder that causes the deterioration of peripheral nerve cells called motor and sensory neurons. When these nerve cells start to malfunction in CMT, patients suffer from muscle weakness and impaired sensation.

The 2D subtype of CMT (CMT2D) is caused by mutations in a gene called GARS, which produces a protein found in all cells of the body. Up until now, it has been a mystery as to why mutations selectively affect the nervous system of CMT2D patients.

Using mouse models of the disease, the group of scientists lead by James N. Sleigh and Giampietro Schiavo showed that mutations in GARS caused the sensory nerves of CMT2D mice to mistakenly switch their identity before birth.

This result was surprising because CMT is classically thought to be a neurodegenerative disease, where the peripheral nerves normally decline during adolescence or adult life. This finding in mice indicates that CMT2D, and perhaps CMT more generally, may arise from a complex relationship between developmental defects and degeneration of the nervous system. If this is shown to be the case in CMT patients, this discovery has profound consequences for the timing of treatments for this disease – patients should be treated during childhood/adolescence, before appearance of clinical symptoms.

Whilst searching for an explanation for this alteration in sensory identity, the team of UCL scientists discovered that the mutant GARS protein incorrectly interacts with a set of nervous system-specific factors, known as the Trk receptors, which are vital to the development and differentiation of sensory nerves.

This aberrant association of mutant GARS with the Trk receptors, not only provides a possible explanation for the selective nervous system nature of CMT2D pathology (only cells that express specific arrays of Trk receptors are susceptible to mutant GARS pathological effects), but could also provide useful targets for therapeutic intervention.

The full article can be found here.

The Swedish translation of the SMA care guide for families is now available on the TREAT-NMD website. To download this guide and to see all other translations please click here.

Action Duchenne will be hosting a pre-clinical day on new horizons in Duchenne and Becker Muscular Dystrophy research, as part of the conference in Birmingham on the 10th of November 2017.

As part of this new and exciting addition to the international conference, we will be looking for abstract and poster presentations across the spectrum of allied healthcare professionals in the following domains:

• Novel therapeutics
• Repurposed therapeutics
• New outcome measures
• Novel biomarker/diagnostic advances
• Current and new trends in natural history data
• Parent and patient reported outcome findings
• New advances in international standards of care for D/BMD

All abstracts and posters will be reviewed by a research committee and the top three of each will receive prizes and invited to present at the Action Duchenne conference on the 10th of November. If you are working in the above areas and wish to submit an abstract and poster, please submit a summary - deadline 18th July. For further details, please contact Diana Riberio.

The TREAT-NMD International Conference was held in December 2015 in Washington DC, with the theme of 'growing the drug pipeline for neuromuscular diseases: optimizing resources for clinical development of new therapies'. The aim of the conference was to address the challenges facing the neuromuscular community regarding the development of new therapies for patients, with key opinion leaders providing their perspectives.

The sessions provided an open discussion between all particpants about the opportunities and challenges and also provided concrete recommendations for active participation of patients and caregivers in drug development.

The paper for the TREAT-NMD Conference has now been published. The article highlights the increase of drug development programmes that present opportunities and challenges. It also has an increased focus on rigour and de-risking of both pre-clinical and clinical studies. The article also highlights the need for increased patient engagement in the design and execution of trials and regulatory processes.

To read the full article on the TREAT-NMD International Conference, click here.

Update in Neuromuscular Disorders

23 - 26 May 2017

London, UK

This clinical course concentrates on childhood and adult neuromuscular disorders with an emphasis on clinical cases, natural history and management. This 4-day course is designed for specialists with an interest in neuromuscular disease; the first two days concentrating on paediatric neuromuscular disorders and the latter two days on adult neuromuscular disorders.

On-line registration is now open - please click here for further details.

Interdisciplinary Neuromuscular Symposium

9 - 10 June 2017

Leibniz-Institute for Analytical Science, Dortmund, Germany

The aim of the Symposium is to provide a comprehensive insight into the molecular basis, as well as the range of diagnostic tests and treatment options for a variety of neuromuscular diseases such as Duchenne Muscular Dystrophy, Myotonic Dystrophy, Limb-Girdle Muscular Dystrophies and Neuropathies.

The symposiums will cover topics including:

• Diseases of neuromuscular transmission and the peripheral nervous system
• Muscular diseases in children and Adults (including overview of currently running "Clinical Trials", genetic testing and physiotherapeutic measures)
• Imaging procedures in the investigation of neuromuscular diseases
• Impact of translational biomedical research towards a broader understanding of disease nature
• Critical discussion of “solved” and “unsolved” patients

The entire symposium will be in German language.

Please click here for further details about speakers and to view the agenda.

UK SMA Research Day

13 June 2017

St Hugh’s College, Oxford, UK

Please join us for the upcoming UK SMA Research Day in Oxford. The recent recommendation of nusinersen as the first approved therapy for SMA makes this a timely opportunity to bring together the community of SMA researchers and clinician scientists to discuss current and future developments in SMA research.

This event is being hosted by the UK SMA Research Consortium, with a small registration fee to offset administration costs (lunch and refreshments provided).

To register click here, or for more information or to make an enquiry, please email Lynn Ossher.

5^th International Summer School on Rare Diseases and Orphan Drug Registries

18 - 22 September 2017

Istituto Superiore di Sanità, Rome, Italy

Registries represent key resources to increase timely and accurate diagnosis, improve patients management, tailor treatments, facilitate clinical trials, support healthcare planning and speed up research.

The International Summer school intends to:

1. Promote the establishment of Findable, Accessible, Interoperable, Reusable (FAIR) registries in compliance with IRDiRC and EU Recommendations
2. Support cooperation among different registry stakeholders and coordination with registries that are developed within European Reference Networks (ERNs) and National Plans in the EU.

The School is open to health professionals, researchers, medical specialists, registry curators, database managers and representatives of patients associations who are involved in or intend to establish a rare disease registry, mainly inside a ERNs. For each ERN, we are especially looking to invite the following participants; a registry curator, a data manager and 1 ePAG (or a patient/patient representative linked with ePAG). The School will accept a maximum of 24-27 participants.

The program, registration information and selection criteria of participants will shortly be available here.

Course: Next-Generation Sequencing in a Diagnostic Setting

25 - 27 September

Ljubljana, Slovenia

3Gb-TEST and RD-Connect are organising a 3-day course, which focuses on clinical diagnostics using exome/genome sequences, variant identification and analysis. The course will include afternoon practical sessions, which will cover various analysis tools, including the RD-Connect genomics platform and the bioinformatics tools developed within RD-Connect.

For more details, please visit the course page here.

Imaging in Neuromuscular Disease

19 - 21 November 2017

Berlin, Germany

Registration is now open for the First International Conference on Imaging in Neuromuscular Disease, which will be held at the Langenbeck-Virchow-Haus in Berlin.

The conference programme will feature internationally-recognized speakers and will highlight developments and advances in all aspects of muscle imaging, with sessions on Diagnostic Muscle Imaging, New Imaging Techniques and Quantitative Muscle Imaging.

Young researchers and trainees are encouraged to attend and participate. Selected abstracts will be featured for platform presentation during the sessions and all posters are eligible for poster awards.

Early bird registration is now open until the 5th June - to register please click here. Registration fees cover all costs associated with the meeting including the provision of conference material, coffee breaks, lunches, poster sessions, the welcome reception and the conference dinner.

Click here for a draft programme. To discuss sponsorship opportunities and to receive a Sponsorship Brochure for this conference, please contact Olav Veldhuizen.