16th November 2011
TREAT-NMD conference report

Conference report

Last week's TREAT-NMD international conference in Geneva brought together more than 250 delegates with an interest in neuromuscular disease: patients, families, clinicians, basic scientists, industry representatives and other key experts. For those who could not attend, the following conference report provides an overview of the sessions plus links to the abstracts provided by all speakers (click the links on the speaker names).

After introductory remarks by TREAT-NMD coordinator Kate Bushby and a description of artist Marianne Wilde's project exploring metaphors and methods of communicating invisible concepts in genetics, the interactive and multidisciplinary tone for the conference was set in the opening forum session, in which Pat Furlong from the US Parent Project Muscular Dystrophy moderated a panel of patients and parents who expressed their opinions on subjects ranging from the challenges and achievements of everyday life to their hopes and fears for the future and thoughts about trials and therapies. This session was based on the "Project DOCC" (Delivery of Chronic Care) concept, which aims to give those affected by a chronic condition the opportunity to educate healthcare professionals about the topics most important to them. The subsequent industry forum hosted by Ed Connor and Joe Irwin gave industry representatives the opportunity to provide their own perspectives of the challenges of operating in the rare disease field and touched on the technical and regulatory barriers and hurdles pharmaceutical companies encounter in taking a drug to market.

The second day began with the session Translational research in adult NMDsMichael Rose opened with an overview of Translational research beyond the laboratory, covering the phases of development from the lab to the clinic and the often underestimated groundwork that has to be done to ensure meaningful outcomes of clinical trials. Michael Shy presented the crucial role of international collaboration and infrastructure in his talk Therapeutic development for the inherited neuropathies; a multidisciplinary, collaborative approach, while Ichizo Nishino described Development of therapy for DMRV/hIBM, where therapy development with a sialic acid preparation is now approaching the phase II trial stage. Charles Thornton closed the session with a comprehensive overview of The current state of myotonic dystrophy translational research, covering recent developments in targets, agents, natural history and biomarkers.

Natural history, clinical outcome measures and standards of care in paediatric diseases was the next topic under discussion. In his presentation Outcome measures in paediatric neuromuscular disorders: old measures and new conceptsEugenio Mercuri presented the substantial achievements that have taken place in recent years thanks to international collaborative approaches, which have resulted in the definition of not one single "best" outcome measure but a range of measures appropriate in different diseases at different stages. In How care accreditations can improve outcomes - experience from Cystic FibrosisStuart Elborn of the European Cystic Fibrosis Society then showed the NMD field what can be achieved when improved therapeutic strategies are combined with a strong push towards delivery of care by all expert centres. In his subsequent presentation Registries and care sites in action for Duchenne muscular dystrophy: the CARE-NMD project Jan Kirschner demonstrated that the NMD field is beginning to take similar steps towards evaluating care practices and networking expert centres. Anne Rutkowski of the patient advocacy group Cure CMD closed the session with a presentation on CMD: It takes a global village and perspective, which described the steps the CMD field has taken towards care guidelines, registries and consensus building.

Switching the focus to cutting-edge research, the session Gene replacement: production and delivery of therapeutics was opened by Jerry Mendell who, in his presentation on Gene Therapy: Myth, Milestones and the Way Forward, used his experience from numerous preclinical studies and the follistatin gene therapy trial to clearly illustrate the challenges - both scientific and regulatory - facing the gene therapy field. In Therapeutic approaches for myopathies of the extracellular matrixMarkus Rüegg presented Therapeutic approaches for myopathies of the extracellular matrix, showing preclinical results that provide proof of concept for future potential clinical application in the CMDs. Thomas Voit then described loco-regional delivery of antisense therapies through AAV in the grmd dog model, including innovative MRI outcome measures to assess response in his presentation Progress towards systemic delivery of AAV-based dystrophin gene correction: The Paris-Evry-Nantes connection. To remind us that this science has a social and ethical dimension, Janice McLaughlin explored the Potential familial and patient responses to gene therapy: lessons from current genetics provision in healthcare.

Kicking off the session on Emerging technologies and SOPs in diagnostics and biomarkersNicolas Lévy presented results from the EU-funded NMD-Chip project in his talk on High throughput molecular screening for neuromuscular disorders, while Alessandra Ferlini presented Biomarkers discovery in neuromuscular diseases by omic procedures, incorporating lessons from a second European project, BIO-NMD. Eric Hoffman described work on DMD biomarkers and correlation with genotype as well as current efforts towards dystrophin quantification in his presentation New approaches to diagnostics and biomarkers, while Giuseppe Novelli provided a regulatory perspective on genomic biomarkers in Clinical Utility and Validity of Genomic Biomarkers.

Antisense approaches towards modification of the DMD gene transcript by exon skipping are currently among the most clinically advanced strategies in the NMD field, with results not just from the preclinical but also the clinical arena. Opening the session Antisense Technologies – Strategies and SuccessesFrancesco Muntoni described recent clinical trial results using the PMO backbone in Lessons on Development of AON Drugs for Duchenne Muscular Dystrophy, while Nathalie Goemans presented results using a different antisense backbone in Exon skipping with 2OMePS antisense oligonucleotides in DMD: current clinical trials and future perspectives. Moving away from DMD to other conditions in which antisense technologies are showing promise, Kathie Bishop of Isis Pharmaceuticals presented Development of Antisense Oligonucleotide Therapeutics for the Treatment of SMA and DM1, while Aurelie Goyenvalle returned to DMD from a different perspective with her presentation on AAV-U7snRNA mediated Exon-skipping Approach for Duchenne Muscular Dystrophy Therapy.

In the conference's keynote presentation focusing on Muscular Dystrophy and drug development - challenges and opportunitiesEd Connor presented the solutions needed to facilitate drug development, including the development of an extensive knowledge base on the disease that comes from registries and natural history, as well as outcome measures consensus, innovative private-public partnerships, transparency, international collaboration and communication, together with innovative financial models and government investment.

The session on Life Quality versus Quality of Life focused on the non-scientific aspects of life with a neuromuscular or other disabling condition. In Disabling barriers: break to includeTom Shakespeare of the World Health Organisation provided a rousing call to action relating to the social aspects of quality of life with disability and provided concrete recommendations for improvements at a national and policy level from the recently published WHO/World Bank World report on disability. Gail Geller presented her work with young men with DMD in The paradox of promise and the many faces of hope in Duchenne muscular dystrophy, while in his humorous and revealing video documentary Not waiting to live, and not living to wait. How I am beating MD, schoolteacher Patrick Moeschen gave a personal insight into how he stays "in motion" in his everyday life.

In the penultimate session of the conference, Stem cell therapies - towards clinical trials, the focus was once more on promising preclinical results in an innovative area. In Exhaustion of muscle progenitor cells in muscular dystyrophy: Implication for stem cell therapyJohnny Huard presented evidence that exhaustion of the muscle progenitor cell may play a role in onset of symptoms in DMD, which opens up possible therapeutic avenues that are not curative but may slow disease onset. In Modelling genetic heart disease using pluripotent stem cells, Chris Denning then presented innovative work using cardiomyocytes reprogrammed from hPSCs to produce in vitro models of human genetic disease, including DMD.

The final session of the conference, What is the future for translational research in rare diseases?, attempted to take the long view and provide a broad perspective on future developments. GertJan van Ommen underlined how experience shows that a close collaboration between fundamental, translational and clinical researchers remains necessary to accelerate preclinical research towards the translational stage in his presentation on Fundamental, translational and clinical research for NMDs. In Advances in genome analysis: is more always better?Clemens Müller-Reible described the consequences of the enormous explosion in genetic data collection through next-generation sequencing techniques and the questions this raises in terms of the possibility of incidental findings, the dangers of removal of clinical experts from the diagnostic pathway, and the challenges of data processing on an unprecedented scale.

In his lighthearted closing remarks, TREAT-NMD coordinator Volker Straub presented the surprising discovery of the "networking gene (NEW)" and the consequences of its over- and under-expression, using a humorous approach to express the serious point that was reiterated throughout the conference: that collaboration and networking is essential for progress in this field. Many speakers emphasised the important role that TREAT-NMD has played in this regard over the last five years and looked forward to its continuation in the future TREAT-NMD Alliance.


Further details of the conference can be found on the dedicated conference website.

Recommendations for Centres of Expertise adopted unanimously
by the European Union Committee of Experts on Rare Diseases
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On 24 October, the third meeting of the European Union Committee of Experts on Rare Diseases (EUCERD) unanimously adopted the Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States (pdf). With 51 members, representing all 27 Member States of the EU, the panel covers all areas relevant to the fields of rare diseases and orphan drugs including academia, government, the biopharmaceutical industry and patient organisations.

Centres of Expertise and European Reference Networks for rare diseases were proposed in order to help organise care for large number of rare conditions affecting scattered patient populations across Europe. This first set of recommendations adopted by the EUCERD committee elaborate quality criteria which Member States can incorporate into their national processes to designate Centres of Expertise.

In common with other areas of rare disease research, the neuromuscular field is able use the quality criteria defined in the EUCERD recommendations to inform planning for field-specific Centres of Expertise. The CARE-NMD project, which aims to help establish a European network of reference centres to improve the quality of care for Duchenne muscular dystrophy (DMD), is an example of where the neuromuscular field will benefit from the groundwork being done at a pan-European rare disease level.

Postdoctoral Researcher Opportunity
RNA Interference & Gene Therapy for Muscular Dystrophy
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The Royal Holloway in London, UK is looking to appoint a post-doctoral scientist with excellent skills in molecular biology, aseptic cell culture, and molecular cloning. Experience in muscle biology and histology, RNAi/ shRNA gene expression knock-down, adeno-associated virus vector (AAV) gene transfer, and in vivo experimentation would be an advantage but training is available.

The successful applicant will join a leading international research team evaluating a revolutionary new approach to combat oculopharyngeal muscular dystrophy (a triplet repeat autosomal dominant muscle disease) in conjunction with the Sydney-based biotechnology company, Benitec PLC, and the Institut de Myologie in Paris. He/ she will be responsible for developing and testing shRNA and gene therapy systems to modulate aberrant gene expression and to counter muscle atrophy. Post is available initially for 18 months with potential for further extension towards a clinical trial.

Download further details or visit the Royal Holloway website to begin the application process.

Update on the Iranian patient registry for DMD
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The creation of the Duchenne / Becker registry in Iran, which collaborates with the TREAT-NMD global DMD registry, was made possible thanks to the initial support of the Iranian Molecular Medicine Network and subsequently the Genetics Department of Social Welfare and the Ministry of Health.

Data gathered in the registry will provide medical experts with both genetic and medical information. A new website has recently been launched and patient information is currently being added. The family guide to the standards of care for DMD is currently being translated into Persian. Once complete this will be available for download from both the Iranian registry website and the TREAT-NMD website. Click the "more" link below to visit the registry website.

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16th November 2011
TREAT-NMD newsletter - 16th November 2011