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28th March 2014
International GNE Myopathy Registry is launched

The GNE myopathy registry has been launched (GNE myopathy is also known as HIBM). It is an international patient self-reported registry available for all GNE patients worldwide who are over 18 years old.

The registry is a part of GNE Disease monitoring program. This program is a collaborative initiative between Newcastle University (TREAT-NMD) and Ultragenyx pharmaceutical. It collects information on clinical presentation and progression of the disease, also quality of life and use of assistive devices.

Anonymous data gathered through the registry will be accessible to the medical and research community, patients, and patient organisations upon approval from the Steering Committee and Ethical Committee. It is our hope that this information will provide insight into the disease and will help drive clinical trials and research that could lead to better treatment strategies. The Registry is currently available in English only.

"I was delighted to see how simple and straightforward the GNE registry was to fill in as I had been dreading putting into words what has been going on in my life for the past twenty five years. However, there was no need as it is a questionnaire with all the relevant data that only needs a click to answer. It also feels good to know that at last something is happening for GNE myopathy patients." - Anne Keenan - Patient

Biomarkers and surrogate endpoints in Duchenne
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With the development of recent novel drug experiments and the number of ongoing clinical trials in DMD the need for fine tools to measure any resultant effects that occur has never been more important.

At a recent ENMC meeting on biomarkers for DMD held in January 2014, Elizabeth Vroom Chair of the United Parent Projects Muscular Dystrophy, voiced the need for a document for parents and patients explaining what biomarkers are and how they can be used in clinical trials. This UPPMD document has now been generated. It also touches upon the potential use of dystrophin as a surrogate endpoint and provides an overview of current work that is ongoing for biomarkers for DMD.

The document can be downloaded from patient organisation websites, the exon skipping COST Network website as well as the TREAT-NMD website visit the DMD section to find out more. It will also be published in the patient forum section of Neuromuscular Disorders.

European Reference Networks: Recommendations and Criteria
in the Neuromuscular field - a workshop report
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In October 2013 18 attendees from 9 countries gathered in the Naarden, Netherlands to attend an ENMC workshop to discuss the possiblity of establishing a network that would work towards improving cross border healthcare for citizens of EU member states. Focussing solely on neuromuscular conditions the initiative would be part of a larger activity called European Reference Networks (ERN).

ERNs are being established in order to improve health care across Europe for patients with rare diseases and other conditions where expertise is rare. The aim is to give Centres of Expertise (CoE) in different countries incentives to work together to allow expertise and knowledge to travel rather than patients themselves. At the same time the network will permit for patients to travel to cross-border CoE when necessary. For CoE to be part of a network they have to fulfill a set of criteria that involve having the expertise to diagnose, following a multi-disciplinary approach to provide high quality care, making a contribution to research and organizing teaching and training opportunities for professionals. The funding and resources that CoE will need to fulfill these criteria will have to be provided nationally by the different European member states.

Further details of the meeting can be found here.

Patient registries play significant part in planning and recruitment
for clinical trial in SMA
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The French pharmaceutical company Trophos announced in early March 2014 positive results from a two year-long Phase II clinical trial of the drug Olesoxime in SMA patients.

Specifically developed as a potential treatment for SMA, Olesoxime has been shown to protect nerve cells from damage in cell culture, while improving neuronal growth and function, indicating that it may be beneficial to patients with SMA. The Phase II double-blind trial of Olesoxime included 165 Type II and non-ambulatory Type III SMA patients aged 3-25, and was performed across 22 centres in seven different European countries. The promising results of the trial are expected to lead to further testing of Olesoxime as a potential treatment for SMA, something that Trophos has reported it is currently pursuing.

The successful planning and recruitment for this clinical trial was largely facilitated through the TREAT-NMD SMA patient registries.

Further information about the results of the trial can be found here.

Prospective Longitudinal Study of the Natural History of Patients
with Myotubular Myopathy
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A multicentre natural history and functional assessment study has been launched for patients with X-linked myotubular myopathy. The study is funded by Valerion Therapeutics in collaboration with Genethon.  A number of therapeutic strategies are currently being investigated for the treatment of this very rare condition and this study will provide additional information to assist these developments.

This non-interventional study aims to assess disease progression over 12 to 36 months. The frequency of visits will vary depending upon age and functional ability ranging from every 3 months to once a year. A wide variety of assessments will be conducted collecting information about strength, motor function, respiratory, liver, kidney and cardiac function and quality of life.

The first site is open in Paris, France. Additional sites will soon open in Essen, Germany and London, UK with sites also expected across Canada and the United States. A total of 60 patients are to be included; 40 in Europe and 20 from North America.

More information about the study can be found on the clinicltrials.gov website, alternatively please contact Dr Laurent Servais in Europe or Michelle Nelken in North America.

Further information can also be found on the Myotubular Trust website.

Find out more about FOR-DMD in three different languages!
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FOR-DMD (Finding the Optimum Regimen of Corticosteroids for DMD) compares daily prednisone and deflazacort regimes against one of the more commonly used intermittent regimes in boys with Duchenne muscular dystrophy.

The study currently has 39 open sites in Canada, France, Germany, Italy, UK and the USA. 80 boys have been recruited into the study and are now receiving drug. More sites are expected to begin recruiting very shortly which will no doubt help the study reach its target figure of 300 boys.

To make information about the study more widely available to anyone interested in taking part, key areas of the FOR-DMD website are now available in English, Italian and also German.

This NIH funded study is led by Dr Robert Griggs from the University of Rochester, USA and Professor Kate Bushby from Newcastle University, UK. If you wish to find out more you may want to watch a recording of a recent webinar where Robert Griggs talks and answers questions about the study.

Catch up with the Prosensa drisapersen webinar
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A webinar which saw Prosensa present a status update on Drisapersen and its follow-on compounds is now available on youTube.

Giles Campion MD, Chief Medical Officer and Senior Vice-President R&D of Prosensa presented, and there were featured talks from Craig Campbell and Craig M. McDonald. Throughout the broadcast viewers were encouraged to submit questions which were then answered at the end.

This patient focused webinar hosted by United Parent Projects Muscular Dystrophy was held on Tuesday, 25 March 2014.

Newcastle University delivers cutting edge neuromuscular
diseases module as part of postgraduate degree programme
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From Autumn 2014 the MRC Centre for Neuromuscular Diseases at Newcastle will be delivering a module entitled “Neuromuscular Diseases” as part of the one year Medical Sciences Masters in Research programme offered by Newcastle University.

The module will cover:

1. How neuromuscular diseases impact on normal muscle structure and function, including normal muscle function and physiology, and the clinical and electrophysiological manifestations of muscle dysfunction across the neuromuscular system.

2. The molecular pathology of neuromuscular diseases, including the application of next generation sequencing and the development of gene and protein based diagnostics. Students will meet patients with neuromuscular diseases and discuss the ethical aspects of research into rare diseases.

3. The assessment of therapeutic strategies through the preclinical modelling and assessment of neuromuscular diseases using cellular and animal systems, including critical appraisal of claims of therapeutic success in the preclinical setting.

4. The state of the art of novel therapeutic strategies for neuromuscular diseases including gene and cell-based therapies; understanding the targets and use of biomarkers; genetic and stem cell-based therapy for neuromuscular diseases; applications of antisense oligonucleotide technology in neuromuscular diseases; other targets for therapy development including downstream targets and protein upregulation. Moving studies into patients; the challenges of trial design in rare diseases.

The module forms part of the training programme in neuromuscular disease operated by the Centre and would particularly suit either clinical or basic scientists with a strong interest in neuromuscular diseases aiming to undertake research in this field. Further details, including entry criteria and how to apply can be obtained from the Newcastle University website. Additional enquiries should be addressed to Dr Steve Laval.

Supporting the pathway to trials for rare diseases: clinical
trial design and other considerations
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TACT chair, Dominic Wells, and Core Group Member, Cristina Csimma, will be co-hosting a pre-conference tutorial with Prof. Ralf-Dieter Hilgers (Institute of Medical Statistics, University Medical Center, Göttingen, Germany) prior to this year's European Conference on Rare Diseases & Orphan Products (ECRD).

This session will take place on Thursday 8 May 2014 and is one of four pre-conference tutorials preceding this year’s ECRD in Berlin. The main objectives of the tutorial are to:

- Gain a greater appreciation of how TACT reviews act as a constructively critical and educational resource for researchers and drug development sponsors evaluating research programs with a translational goal toward entry into clinical trials in neuromuscular diseases.

- Understand the value of a TACT review and how it can be utilised in a wider context including funding.

This tutorial will be of interest to all stakeholders who would like to learn how the TACT model guides development of therapies for rare diseases. This includes clinicians, researchers, patient advocacy groups and industry.

To register for the tutorial please click here.

Deadline for WMS 2014 poster abstracts approaches!
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The World Muscle Society's 19th International Congress will take place in Berlin, Germany, 7-11 October 2014.

The Congress is the premier annual international meeting on neuromuscular disorders. The focus this year will be upon protein aggregation, autophagy and proteomics, limb-girdle muscular dystrophies (LGMDs) and, as usual, on the advances in treatment of neuromuscular disorders.

The deadline for poster abstracts is Wednesday 2 April whilst the early bird registration closes at the end of April.

Further information about this year's congress can be found on the dedicated website.

Follow us on twitter!
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Did you know TREAT-NMD is active on Twitter?

We regularly tweet announcements and news from meetings and events as they happen. We also retweet information from others that we think you may be of interest to our followers. Follow us on Twitter to stay up to date with what is happening in the neuromuscular community.


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28th March 2014
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