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21st April 2011
1st Chinese Conference on Translational Research in Duchenne Muscular Dystrophy

Networking Duchenne muscular dystrophy research and care in China

Conference report by Professor Haifang Yin, Tianjin Medical University

After six months of intensive preparation, the first ever Chinese DMD conference was successfully held from 7-9 April 2011 in Guangzhou, China, where a group of leading international neuromuscular specialists and DMD patient organizations joined Chinese healthcare professionals, patient groups and researchers to take part in the 1st Chinese Conference on Translational Research in Duchenne Muscular Dystrophy.

Around 300 people from across the country, including clinicians, healthcare professionals, researchers and patients and families, as well as medical students from Sun Yat-sen University and Tianjin Medical University, participated in a two-day scientific programme drawn up jointly by TREAT-NMD (Professor Volker Straub, Newcastle University) and the leaders of the local organising committee (Professor Cheng Zhang, Sun Yat-sen University, Guangzhou and Professor Haifang Yin, Tianjin Medical University). The scientific programme was followed by a dedicated family day led by the United Parent Projects Muscular Dystrophy (UPPMD - Pat Furlong and Elizabeth Vroom) and Chinese representatives.

Scientific conference

The conference programme covered the latest updates in research, clinical trials and care in Duchenne muscular dystrophy (DMD) and coincided with the official launch of the published Chinese version of the DMD family guide to the international care standards for the condition, which has been translated into Chinese (both traditional and simplified) by the Hong Kong Paediatric Neurology Association. The printed versions of the guide arrived "hot off the press" in the middle of the conference itself, and families flocked to get their hands on a copy of this eagerly awaited document.

Presentations on outcome measures, patient registries, recent clinical trials and cutting-edge antisense oligonucleotide research, while highlighting the current optimism that therapies for DMD are on the horizon, also focused attention on the many challenges that remain before a treatment that has interesting preclinical results in the lab can actually make it to the stage of being a marketed therapy available to patients.

Chinese speakers revealed the current situation in patient care in China, highlighting its positive aspects, such as the availability of expertise and efforts to keep up with international standards, and challenges including lack of universal availability of genetic diagnosis and the variability of access to care between regions. Presentations from the international patient advocacy organisations involved in UPPMD served to emphasise to the professional audience the importance of equal partnerships between clinicians and patients and their families and showed what parents and families can achieve by working together.

Family day

The family day on the Saturday was a highly interactive event that gave patients and families the opportunity to ask the Chinese and international specialists specific questions about trials, therapies and care. Research and care updates from international speakers were given in language accessible to families, and the US and European Parent Project speakers gave a clear message of patient and family strength and leadership. The Chinese patient groups are now considering setting up their own website and working together to raise the awareness of DMD in China as well as planning a longer dedicated "family conference" in the coming years.

Panel session on Chinese networking

The scientific programme closed with a panel session led by local organisers Professors Cheng Zhang and Haifang Yin that brought together clinicians from specialist centres across China (including Hong Kong) for a discussion about the creation of a Chinese neuromuscular network. The aim of such an initiative would be to improve integration into international initiatives in the neuromuscular field, prepare for participation in future clinical trials, and provide an infrastructure for dissemination of information relating to DMD and for the implementation of best-practice care.

The participants concluded that it will be important as a next step to engage more clinicians and the involved medical centres from China and Hong Kong for mutual exchange and sharing of clinical experience on care, treatment and rehabilitation services for DMD children. Academic meetings involving medical and multidisciplinary teams from China, Hong Kong and overseas experts will be helpful to ensure mutual learning, updates on research findings, sharing expertise and enhancement of network collaboration. With the high interest in the translated DMD family guide proving its importance to Chinese families, the Hong Kong Paediatric Neurology Association are now also planning to translate the family guide for SMA in the coming year and distribute it to SMA families across Hong Kong and China. Interest in establishing a Chinese and Hong Kong patient registry for DMD and SMA that feeds into the global TREAT-NMD registries initiative has been evident for some time, and this conference has provided a further incentive to make progress in this regard in the coming months.

The enthusiasm of the panellists and audience members to increase networking was evident and concrete proposals have already been put forward, with a follow-up meeting planned at the end of May during the Chinese Conference of Neurology.

This conference was made possible thanks to the generous support of its sponsors. We would like to take this opportunity to thank our sponsors as well as all the speakers who gave so generously of their time and expertise and brought hope and the real opportunity for future progress to so many DMD families and the medical community in China.

International Speakers:

Annemieke Aartsma-Rus, Netherlands
Doug Biggar, Canada
Kevin Campbell, USA
Cristina Csimma, USA
Michelle Eagle, UK
Richard Finkel, USA
Pat Furlong, USA
Kathryn North, Australia
Markus Rüegg, Switzerland
Thomas Sejersen, Sweden
Volker Straub, UK
Jan Verschuuren, Netherlands
Elizabeth Vroom, Netherlands
Matthew Wood, UK

Local Organizing Committee:

Prof. Cheng Zhang (The First Affiliated Hospital of Sun Yat-sen University, Guangzhou)
Prof. Haifang Yin (Tianjin Medical University, Tianjin)
Dr Shanwei Feng (The First Affiliated Hospital of Sun Yat-sen University, Guangzhou)
Prof. Yun Yuan (The First Affiliated Hospital of Peking University, Beijing)
Prof. Zhuolin Liu (The First Affiliated Hospital of Sun Yat-sen University, Guangzhou)
Prof. Xihua Li (Shanghai Jiao tong University, Shanghai)
Prof. Chuanzhu Yan (Shandong University, Jinan)
Prof. Shiming Jin (Chinese Association of Integrative Medicine)
Dr Juan Yang (The First Affiliated Hospital of Sun Yat-sen University, Guangzhou)
Dr Jiqing Cao (The First Affiliated Hospital of Sun Yat-sen University, Guangzhou)

Hong Kong collaborator:

Dr Sophelia Chan (Neuromuscular working group, Paediatric Neurology Association of Hong Kong)

Next assessment round for ENMC workshop
applications announced
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ENMC workshops bring together around 20 leading experts in a particular area of neuromuscular research to share knowledge, foster discussion and make progress. The deadline for applications for ENMC workshops to be conducted in the first half of 2012 is 15th September 2011.  The forms to be completed for a workshop application can be downloaded from the ENMC website, www.enmc.org .

If you have any questions regarding the application procedure, please do not hesitate to contact the ENMC office at enmc@enmc.org.

Submission deadline: 15 September 2011

Job opportunity in Paris:
EURORDIS rare disease patient registry project manager
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EURORDIS (the European Organisation for Rare Diseases) is seeking a European Project Manager in the field of Rare Disease Patient Registries.

This is a permanent full-time position based in Paris, France and attracts an annual gross salary of between 34 k€ - 38 k€, depending upon experience.

Tertiary education (sociology, science, public health) is required as well as a minimum of 3 years of work experience in the management of projects in an international environment.

English Mother Tongue or equivalent.

The deadline for applications is 30th April 2011

Download further information here

ACE-031 Program Update From Acceleron and Shire
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In an effort to keep the Duchenne muscular dystrophy community informed, Acceleron and Shire wish to provide an update about the status of the ACE-031 clinical program. During the course of clinical trials in healthy adults and in DMD boys, some participants experienced minor nosebleeds, gum bleeding, and/or small dilated blood vessels within the skin. These events all resolved fully upon discontinuation of treatment. By themselves, the minor bleeding events and dilated blood vessels were not considered to be a serious safety concern for study subjects. However, based on review of these safety data with the FDA and Health Canada, Acceleron has terminated the A031-03 DMD study and has suspended enrollment and dosing in the follow-on extension study A031-06.

Acceleron and Shire remain committed to the global DMD clinical program and the development of ACE-031. To that end, it is our intention to start new studies of ACE-031 in DMD with appropriate safety monitoring following discussions with regulatory agencies. In the coming months, we will provide updates to the DMD community as appropriate.

NMD-chip project update from the
Steering Committee meeting in Budapest
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NMD-chip is a scientific project funded by the European Union under its Seventh Framework Programme (FP7). Its aim is to design, develop and validate new sensitive high-throughput DNA microarrays ("gene chips") to diagnose patients affected by neuromuscular disorders.

Within the project, chips are being designed for the diagnosis of Duchenne / Becker muscular dystrophies (DMD/BMD), limb girdle muscular dystrophies (LGMD), congenital muscular dystrophies (CMD), and hereditary motor-sensory neuropathies or Charcot-Marie-Tooth neuropathies (CMT).

Additionally, "candidate gene chips" are being developed to look for mutations in patients who have a neuromuscular disorder where the disease-causing mutation has not yet been discovered.

NMD-chip was launched in 2008 and the project is now entering its final phase, with its official end date being 31 September 2010. At the penultimate Steering Committee meeting held in Budapest in March, project partners gathered for a progress update and an analysis of the final stage of the project and the next steps to be taken to advance cutting-edge neuromuscular diagnostics in 2012 and beyond.

Partners provided detailed updates on the individual "workpackages" that make up the project, in particular the experiments taking place to refine and validate the chips. Work on the design of the "known gene" chips officially finished in January 2011. A second comparative genomic hybridization (CGH) array design for LGMD/CMD has been performed, and sequence capture (SC) array design has been initiated and tests are ongoing. Chips for the 50 known LGMD/DMD/CMD genes are being manufactured, and the CMT gene chip is also underway. 

Extensive testing and technical validation using control DNA is essential to refine the chip design and validate its reliability, and robust methods of data analysis have to be implemented in order to assess the quality of each experiment. Development and testing of software to enable analysis of the vast amounts of data created by every single experiment, and setting criteria for this analysis, is a crucial part of the project. 

For the candidate gene chips, lists of candidate genes were established for LGMD/CMD/CMT, with the same candidate lists used for both CGH and sequence capture chips. Both types of chip have been ordered and tested. Due to rapid technological advances during the lifetime of the project, it was felt that "in solution" capture might be a preferable method to "on array" capture – the initial chip designs used “on array” capture but comparison with a new design using "in solution" capture is now ongoing. 

Collecting all the variant data obtained in the different labs using the chips by means of a reference materials database is a major part of the work, as it is essential to build up a database of variants that can be analysed and compared to assess pathogenicity. Additionally, recent successes with exomes generate a vast number of variants to assess, and thus it is very important to use consistent software and thresholds and to share all findings from the start to sort interesting/recurrent variants. 

Overall, the NMD-chip project has been an excellent opportunity to advance the field of neuromuscular diagnostics. It has provided a platform for international collaboration across Europe and improved links with US specialist groups working in the same area. However, the speed of evolution of the technology has exceeded the estimates prior to the start of the project, and this has necessitated modifications to chip design and changes in the project’s focus. The formal end of the EU project in September will by no means be the end of the work, and the project partners will continue to work together  to optimise the chips and build on the technological advances that have taken place, making use of further grant opportunities where possible.

Running costs for next-generation sequencing are still high. Not all labs can afford platforms/equipment for next-generation sequencing, but prices are falling and academic/private partnerships toward installation of next-generation sequencing machines for diagnostics are occurring in some places. The new tools will most likely continue to evolve very fast, given the speed of the technological improvements arising in whole genome exploration techniques (in-solution and next-generation-sequencing-only techniques). The key questions for the future of molecular genetic diagnostics include validation, data versus result, the need for bio-informatics tools that can cope with the data analysis tasks, and the ethical issues surrounding the collection of variants and possible unexpected findings. The final Steering Committee meeting in London at the end of September will formally conclude the project but has to be regarded as another step towards further work in this rapidly developing field.


TREAT-NMD 2011 conference update

Registration for the TREAT-NMD conference is open and delegates booking now can still take advantage of the 'Early-Bird Rate' until 15th May. Full details are available on the conference website - click the green "conference 2011" button below.

Registered delegates are encouraged to submit an abstract for inclusion in one of the poster sessions. The deadline for abstract submissions is 31st July.

The draft programme is now available to download from the conference website. Comprehensive information about the conference as well as the venue and Geneva itself can also be found on the site. Specially negotiated airfares have been arranged with some airlines so be sure to check this before you book your travel. Delegates can save up to 20% with Star Alliance carriers on travel to the conference.

Don't forget that to take advantage of the early bird discounted rate you need to have registered for the conference by 15th May 2011.

Upcoming meetings
Past newsletters
TREAT-NMD conference 2011
21st April 2011
TREAT-NMD newsletter no. 99
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