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28th March 2013
Anna Kole announced as new patient representative
on TREAT-NMD Executive Committee

Voting for the 4th patient organisation representative on the TREAT-NMD Alliance Executive Committee closed on Monday and the 162 votes received have since been verified and counted. As a result, we are delighted to announce that Anna Kole from EURORDIS secured the highest number of votes and has accepted the position on the Executive Committee with immediate effect.

Anna will bring her valuable experience as the Registries and Biobanks Project Manager for EURORDIS to the Executive Committee. Currently she manages EURORDIS’ participation in all projects focused on patient registries, biobanks, clinical bioinformatics and -omics, such as EPIRARE and RD-CONNECT, empowering patients and their representatives as active participants in the research process.

Klair Bayley, Vitaliy Matyushenko and M. Louis Stanislas came joint second with Liz van Zimmeren very close behind. We would like to take this opportunity to thank all the TREAT-NMD Alliance members who took part in the voting for their preferred candidate and also the candidates themselves for taking the time and effort to stand for this position.

We look forward to the valuable contribution Anna will bring to the Executive Committee in the coming months and working more closely with the other candidates. A full list of results is available on request, please contact Stephen Lynn. To view the rest of the Executive Committees' details please click 'more'.

Self-medication via the internet: Is it possible? Is it ethical?
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The TREAT-NMD Project Ethics Council (PEC) was approached by a clinician concerned that a parent of a patient had found an internet supplier of Ataluren (PTC 124). The parent was considering purchasing some to treat his son.

We contacted PTC Therapeutics, the drug’s manufacturer, who knew nothing about the supplier and went on to confirm that the drug has not been approved by regulatory authorities in any country and thus cannot be legally purchased for human use.

To test whether it is possible to buy the drug we contacted the company concerned. In correspondence with us they emphasised that though they supply the drug it can only be purchased for research purposes as it is not of pharmaceutical grade or available in tablet form. The company reassured us that they have systems in place to ‘vet’ enquiries and ensure that only legitimate research organizations  can purchase Ataluren.

There has been some discussion about the availability of Ataluren on online forums for Duchenne muscular dystrophy and most people are adopting an appropriately cautious note.

To purchase and attempt to use Ataluren in this form is not only illegal but unethical; risking the health of the recipient by using a compound of uncertain quality and unknown side-effects. The bottom line is: ‘just don’t do it’!

Read the full opinion here.

A new registry for Mytonic Dystrophy launches in USA
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The Myotonic Dystrophy Family Registry is a web-based registry created specifically for individuals with myotonic dystrophy (DM1 and DM2). MDFR is unique in that it will not only help researchers find new, effective treatments and identify possible participants for upcoming clinical trials and research studies, but will also allow anyone who is registered to have access to the collected data (de-identified only), from academic and pharmaceutical researchers to individuals or families living with DM. The goal is to give all DM stakeholders, including family members, a better understanding of the disease, the DM community, and current research and advocacy efforts. To register, head to www.myotonicregistry.org or, for more information, email the Registry Coordinator at coordinator@myotonicregistry.org.

BIO-NMD's final newsletter
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The BIO-NMD project has been searching for new biomarkers which will help to improve our understanding of neuromuscular disease. Biomarker research is key to improving treatments, diagnosis and monitoring of disease and new biomarkers can also help to improve clinical trials for new therapies. More information about BIO-NMD can be found on the project website at: www.bio-nmd.eu.

The project has been a great collaborative success, coordinated by Alessandra Ferlini at the University of Ferrara,  and has now officially come to the end of its EU-funding period. The project partners are pleased to report that the final project newsletter has been published. This gives a comprehensive summary of the project's background, successes and results. It has been written in such a way that it should be accessible to a non-specialist audience and it is hoped that all those with an interest in biomarkers, neuromuscular disease and rare disease in general will find it of use and of interest. The newsletter (in English) can be found at: here and it has now also been translated into Dutch by the BIO-NMD team in Leiden. This version can be found here

First International Rare Disease Research Consortium
Conference now open to the public
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The first IRDiRC Conference will be held in Dublin, Ireland on 16-17 April 2013 and is being organised by the European Commission in association with the Irish presidency of the Council of the European Union. The conference aims to gather stakeholders from across the globe active in the rare disease area. A top-level programme with a clear research focus will take stock of advances toward the IRDiRC goals of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020.

There will also be ample opportunities to network with the international rare disease community and a poster session will showcase results from research projects funded by IRDiRC members. The conference is open to everyone interested in rare disease research. Registering is free of charge and registrations will be managed on a first-come-first-served basis.

CARE-NMD International Conference:
Last Call for Discounted Registration Package
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The extended deadline of 30th March for the discounted registration package for the CARE-NMD International Conference on DMD is fast approaching.

The conference, which will take place at the Hilton WestEnd Budapest on 18th-19th April, brings together leading experts and patient organisations around the theme of "Care for People Living with DMD". The full programme along with further information about the conference is available on the CARE-NMD website.

The discounted rate of €150, available while places remain until 30th March, includes entrance to the conference and two nights accommodation in the Hilton WestEnd.

First Italian Conference for Beta-sarcoglycanopathy Family Group
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The first National Conference of the Beta-sarcoglycanopathy Family Group (GFB) is scheduled to take place on 19th April 2013 in Milan, Italy.

The GFB consists of a group of families all affected by beta-sarcoglycanopathy, a rare form of muscular dystrophy. They live in Italy and for a number of years have been active members of the Italian Union for the fight against muscular dystrophy (UILDM) participating in the annual fundraising Telethon. Their mission is to represent those affected with beta-sarcoglycanopathy by interacting with various stakeholder institutions, research organizations, other associations and the patients themselves.

The focus of this conference is to not only learn more about this rare muscular dystrophy but also to connect with other families and patients. Various aspects of day-to-day life with this disease will be covered and information about clinical, legal, logistical, organizational, and scientific research will also be available. There will also be an opportunity for those with beta-sarcoglycanopathy to register their interest in being part of a future patient registry during the conference.

Newcastle University includes cutting edge neuromuscular
diseases module as part of postgraduate degree programme
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From Autumn 2013 the MRC Centre for Neuromuscular Diseases at Newcastle will be organising a module entitled “Neuromuscular Diseases” as part of the one year Medical Sciences Masters in Research programme offered by Newcastle University (www.ncl.ac.uk/biomedicine/study/postgraduate/mres/). 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.
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.

Genethon launches international postdoctoral program
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Genethon is launching an international postdoctoral program to attract excellent scientists who wish to pursue their career in the field of gene therapy. Applicants who have less than three years of postdoctoral experience are eligible. The ideal candidate will have a strong interest in translational research in the field of genetic diseases, a solid background in cell and molecular biology, a good publication record and excellent references. Previous experience with viral vectors and/or animal models of disease is a plus.

Postdoctoral research positions are available for a period of three years. For further details of this and other positions available in the neuromuscular field visit the job/research opportunities section of the website.

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28th March 2013
TREAT-NMD newsletter - 28th March 2013
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