26th September 2014
Care and Trial Site Registry seeks more
centres with adult FSHD, LGMD, and DMD patients

The TREAT-NMD Care and Trial Site Registry (CTSR) is currently looking expand the number of neuromuscular centres that it lists and is particularly interested to hear from centres that are seeing adult patients with FSHD, LGMD, and DMD.

The CTSR was established more than five years ago to collect patient numbers and feasibility information from neuromuscular centres all over the world and plays an integral part of the TREAT-NMD network. During this time the database has been used successfully by academic institutions and industry for health care research and clinical research including selection of trial sites. You can find out more about the CTSR in a recent publication available here.

Most enquiries the CTSR has received were focused on paediatric populations like Duchenne muscular dystrophy or spinal muscular atrophy, but recently it has received more requests concerning adult patients with neuromuscular diseases. The CTSR is now looking to expand the number of centres on the registry and is particularly interested to hear from centres that are seeing adult patients with FSHD, LGMD, and DMD.

If you are interested in being listed as a site that sees these patients with these diseases please contact the CTSR as soon as possible.

Further information about the registry can be found here.

European Reference Networks: recommendations and criteria
in the neuromuscular field - workshop report published
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In October 2013, the 200th ENMC workshop brought together 18 participants from 9 EU Member States, to discuss how best to prepare the neuromuscular (NMD) field for the launch of European Reference Networks (ERNs).

ERNs will facilitate a concentration of healthcare and research expertise, and enable the organisation of a critical mass of patients with conditions requiring a highly specialised approach.

Rare diseases, which include the heterogeneous range of neuromuscular disorders, are natural beneficiaries of this collaborative, multi-stakeholder approach.

The report from the ENMC workshop has recently been published in the journal Neuromuscular Disorders 24 (2014).

As the report acknowledges, the NMD field is already well-networked, supported by TREAT-NMD and the many tools and resources developed by key actors in the field. The workshop ultimately aimed to assess how effectively the NMD field meets the criteria outlined in the ‘Cross-Border Healthcare’ Directive 2011/24/EU. With active participation and advice from representatives of additional disease areas (including the rare anaemias and metabolic disorders networks) the group concluded that the NMD field is in a strong position to organise an ERN, once the first calls are launched in 2015.

You can access the report here.

SMA Europe call for research proposals
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SMA Europe is pleased to announce its 7th international Call for SMA Research Projects. This new call for SMA projects is open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease.

The overall goal of SMA-Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. With time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments.

Priority will be given to proposals concentrating on the following areas:

- Understanding and function of the SMN Complex as it relates to the pathophysiology of SMA
- Innovative approaches for therapy of SMA
- Projects, study groups, consortia or others addressing bottlenecks hindering rapid translation from basic research to clinical trials including innovative measures and endpoints, and appropriate methodology to follow disease progression and treatment effect
- Natural history of SMA

The application deadline for proposals is 16 October, 2014. Further details can be found here.

UPPMD to host Prosensa webinar update on drisapersen
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UPPMD is hosting a Prosensa Update About Drisapersen & Other Programs webinar on behalf of all of its member organizations worldwide.

The webinar will take place on Thursday 2 October 2014 at 18:00 CET (12:00 Eastern and 09:00 Pacific)

Questions for Prosensa to be addressed during this webinar can be sent till 29 September 2014 to UPPMD@euronet.nl

The webinar will be presented by Anthony Hall MD, Medical Director Medical Affairs of Prosensa. He will be joined by the following guest speakers:

- Annemieke Aartsma-Rus PhD, Associate Professor at the Department of Human Genetics at Leiden University Medical Center, Netherlands, Visiting Professor at the Institute of Genetic Medicine of Newcastle University, UK and Chair of the TREAT-NMD Executive Committee.

- Thomas Voit MD, Professor of Pediatrics at the University Pierre et Marie Curie Paris 6, Medical and Scientific Director of the Institute of Myology at the Pitié-Salpêtrière Hospital and Director of the mixed UPMC-INSERM-CNRS research unit UM76, France.

- Brenda Wong MD MBBS, Professor of Clinical Pediatrics and Neurology and Director of Comprehensive Neuromuscular Center at Cincinnati Children's Hospital Medical Center and Associate Professor at University of Cincinnati Department of Pediatrics, USA.

Further details of how to join this webinar can be found here.

GNE Myopathy Disease Monitoring Program (GNEM- DMP) update
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The patient information sheet and consent form for the GNE-Myopathy International registry have now been translated into eight different languages: Arabic, Chinese, English, Farsi, French, Hebrew, Italian and Spanish. We hope that this will help patients and clinicians better understand the project and encourage patients to participate in the registry part of the DMP.

Further information about the registry as well as the translated documents can be found here.

If you have any further questions about the registry contact us at hibm@treat-nmd.eu.

Phase I trial for Congenital Muscular Dystrophies
starting in late 2014
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Santhera Pharmaceuticals has initiated a clinical program with a repositioned drug candidate known as omigapil for therapeutic use in Congenital Muscular Dystrophy (CMD).

Omigapil previously reached late-stage clinical development for other neurological indications, and is an ideal candidate for the treatment of CMD in which muscle cell death by apoptosis is a major contributing factor.

The clinical development program will begin with a Phase I safety study called CALLISTO with paediatric and adolescent CMD patients suffering either from the Ullrich or from MDC1A subtypes of CMD which will influence the design of a future trial. CALLISTO will be conducted at the National Institute of Neurological Disorders and Stroke (NINDS), part of the US National Institutes of Health (NIH).

The program is financially supported by EndoStem, an EU 7th Framework Programme, and two patient organizations, the US-based Cure CMD and the Swiss Foundation for Research on Muscle Diseases.

Patient enrolment is expected to start in late 2014. The CALLISTO trial offers hope to patients with Congenital Muscular Dystrophies, affected with devastating muscle loss and for which no treatment is currently available to slow down or stop progression of the disease.

Duchenne muscular dystrophy - research overview update
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The overview of therapeutic approaches for Duchenne muscular dystrophy that are currently in clinical development has been recently revised by Annemieke Aartsma-Rus to reflect to most up-to-date information. This section forms part of the DMD research overview area on the TREAT-NMD website and is regularly updated pulling together information from various sources to enable visitors to gain a valuable overview of current DMD research in one place.

This latest update is based on information which was presented at the Parent Project Muscular Dystrophy Connect meeting which took place in June in Chicago.

The funding to allow Annemieke Aartsma-Rus to attend this meeting came from the Duchenne Parent Project Netherlands and is gratefully acknowledged.

DMD Imperatives now available in Chinese, Croatian and Serbian
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We are delighted to announce that the one-page guide to best-practice care for Duchenne muscular dystrophy has recently been translated into Chinese, Croatian and Serbian. This takes the total number of translations to twenty two!

The guide is a single-page summary of best-practice care in Duchenne muscular dystrophy (DMD). Based on the existing Care Considerations, it will broaden awareness of the “imperatives” in good DMD care, especially amongst non-specialists who are not familiar with the disease and will not have read the full Lancet publication or the condensed care guidelines developed for families.

We would like to take this opportunity to thank all the patient organizations and medical professionals who have made the guide and the subsequent translations the great success they are.

Annual World Duchenne Awareness Day launches
with great fanfare!
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Sunday 7 September 2014 was a landmark day for the DMD community marking the launch of the first World Duchenne Awareness Day. Stakeholders in the DMD community from around the world marked this special day with mass balloon releases along with various other events all intending to raise the profile and awareness of DMD throughout the world.

The day was a resounding success.

If sadly you missed it, you can catch up with events on a dedicated FaceBook page or visit the World Duchenne Awareness Day website to watch a short video highlighting the day to day life of those affected by DMD. Most importantly though, we all need to mark 7 September 2015 in our diaries now to ensure this awareness day goes from strength to strength.

COST Action - exon skipping meeting report
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The COST Action on exon skipping is a network that aims to facilitate clinical development of exon skipping therapy for rare diseases. Members of the regulatory models and biochemical outcome measures working groups met on 26 May 2014 in Leiden to discuss translational and regulatory challenges for clinical development of exon skipping.

The scientific meeting report will be published in Human Gene Therapy.

A summary for the general public has been produced and can be found here.

GNE Myopathy - Communication & Registry Coordinator required
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A opportunity has arisen for a new Communication & Registry Coordinator. Based at the Newcastle Muscle Centre within the Institute of Genetic Medicine in Newcastle upon Tyne, UK, the successful candidate will be part of a group responsible for a number of European projects in the rare disease field.

The coordinator will be part of a team working on the GNE myopathy Disease Monitoring Program (GNEM DMP) which includes an international patient registry and a clinical natural history study. They will take responsibility for the programme communications and ensure the efficient collection of good quality data through the registry. The role will require participation in the GNEM DMP strategy planning, publication and dissemination of other newsletters and resources developed by the GNEM DMP and providing support for the patient registry activities.

Further information about this post is available in the opportunities section of the TREAT-NMD website.

Latest FOR-DMD newsletter now available
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The latest FOR-DMD newsletter is now available to download directly from the project website. The FOR-DMD study (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 has currently recruited over one hundred boys with DMD from open study sites in Canada, France, Germany, Italy, UK and USA. More sites 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 who is interested or who is thinking of participating, the key areas of the FOR-DMD website have been translated from English in to Italian and 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. Visit the FOR-DMD website for more information.

10th TACT review meeting, October 2014
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We are pleased to announce that the following applications will be reviewed at the 10th TACT review meeting in Chicago, USA between 25-26 October 2014:

- Seth Porter, FibroGen Inc, San Francisco, USA:  Clinical trial of FG-3019 in patients with Duchenne muscular dystrophy.
- Gloria Vigliani: Naproxcinod for the treatment of Duchenne muscular dystrophy
- Suyash Prasad, Audentes Therapeutics Inc, San Francisco, USA: Systemically delivered AAV8 gene therapy for X-linked myotubular myopathy (XLMTM)

Following the face-to-face review meeting, TACT reviewers will generate detailed reports to the applicants within 6 weeks.  Non‐confidential report summaries, developed in collaboration with the applicant, will be available via the TREAT‐NMD website within 8 weeks following the meeting.

The 11th TACT review meeting will be held in Europe 28-29 March 2015.  Those interested in submitting an application should send an expression of interest to the TACT secretariat Louise Johnston

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26th September 2014
TREAT-NMD newsletter - 26th September 2014