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4th October 2013
TREAT-NMD Alliance Conference 2013 - deadline for registration extended

We have been delighted by the number and variety of the attendees that have registered to attend the TREAT-NMD Alliance Conference from 30 October - 1 November 2013. There are only a few spaces left, but in response to those who haven't had a chance to register for the conference but would like to attend the event, we have extended the deadline for registration to Monday 14th October.
The online registration form takes only a couple of minutes to complete. Registration for the conference is free of charge for academics, TREAT-NMD-affiliated registry curators, patients and patient representatives.

The programme for this year's TREAT-NMD Alliance conference shows a wide range of speakers who are world experts in their field. Over twenty speakers representing Europe, the US, Japan and Australia will arrive in Newcastle in October to deliver a comprehensive overview of the scientific acheivements, patient involvment, ethics and upcoming new themes of collaboration in the area of TREAT-NMD related research. You can find the most up-to-date programme for the conference here.

Further information about the conference can be found on the TREAT-NMD website.

We look forward to welcoming you to Newcastle!

Care and Trial Site Registry is significantly expanded
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The Care and Trial Site Registry (CTSR) has provided information on personnel, facilities and patient populations across clinical centres with expertise in the neuromuscular field since 2007. It was established as a part of the original TREAT-NMD project by one of Germany's leading Departments of Neuropaediatrics and Muscle Disorders at the University Medical Centre in Freiburg. The registry functions as a database of care and trial sites providing information to industry, health professionals and patients seeking specialized centres worldwide.

Throughout 2013, the Freiburg team has been working with Newcastle and with new partners at the German Center for Neurodegenerative Diseases (DZNE) as part of the EU FP7 funded Neuromics project. This work has seen the CTSR questionnaire improved and expanded to include more information relevant to neuromuscular diseases. At the same time, muscular channelopathies, hereditary motor neuropathies and congenital myasthenic syndrome have now been included. As part of this major development, the CTSR has also been expanded to cover the field of rare neurodegenerative diseases (NDD). This will be extremely valuable to the field. The expansion of the CTSR to rare neurodegenerative diseases will greatly help to disseminate information about expert sites to patients and the public and to stimulate initiation of therapeutic trials.

The CTSR team would like to encourage centres already registered to check and update their records taking advantage of the new data items added. We would also urge those working in neurodegenerative centres to register as soon as possible in order that the NDD community can start to benefit from this resource.

More detailed information about the CTSR can be found here.

Call for GNE myopathy/ HIBM patients in the UK
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The GNE myopathy natural history study is now open for recruitment in the UK.

To be eligible, patients need to have a genetically confirmed diagnosis of GNE myopathy, be over 18 years of age, reside in the UK and be able to attend appointments in Newcastle once or twice a year. The study will assess quality of life, perform various muscle tests and analyse serum biomarkers with the goal of assessing and monitoring the disease's natural progression. Please note - no experimental medication will be given to participants as part of the study.

This study forms part of the “GNE myopathy Disease monitoring program: A Registry and Prospective Observational Natural History Study to Assess GNE myopathy (GNE-M DMP)” and is sponsored by Ultragenyx Pharmaceutical Inc.

To find out more about the study and eligibility criteria please contact: Professor Hanns Lochmüller or Dr Oksana Pogoryelova.

GNE Myopathy is also known as hereditary inclusion body myopathy (HIBM), Nonaka disease, quadriceps-sparing myopathy or distal myopathy with rimmed vacuoles. For further details about the disease and this study visit the TREAT-NMD website.

COST exon skipping workshop on oligonucleotide delivery
held in Leiden
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On 25-26 September the COST Action “Networking towards clinical application of antisense-mediated exon skipping” organized a workshop on antisense oligonucleotide delivery in Leiden. The meeting was organized by the Action Chair (Annemieke Aartsma-Rus) and was attended by scientists working on exon skipping, antisense oligonucleotides as well as a liver specialist.

Participants came from France (Aurélie Goyenvalle, France Pietri-Rouxel and Françoise Rouault), Germany (Sabine Krause), Israel (Anwar Rayan), the Netherlands (Annemieke Aartsma-Rus and Ingrid Verhaart), Norway (Bård Smedsrod), Spain (Virginia Arechevala-Gomeza, Lorena Gallego-Villar and Lourdes Ruiz Desviat) and the United Kingdom (Mike Gait, Linda Popplewell, Dominic Wells and Matthew Wood). Participants presented current work and discussed delivery challenges under a confidentiality agreement.

Future workshops will focus on oligonucleotide delivery to the brain (January 2014, organized by Annemieke Aartsma-Rus, Aurélie Goyenvalle and Matthew Wood) and oligonucleotide chemistry and toxicology (April 2014, organized by Annemieke Aartsma-Rus, Samir El Andaloussi and Mike Gait).

Note that participation in this COST Action is open to everyone residing in a COST country willing and able to contribute towards the objectives. Please contact Annemieke Aartsma-Rus for more information or check the website to learn more.

Note also that COST Actions provide opportunities for researchers to visit a lab in another COST country for 5-90 days to contribute to the scientific objectives of the Action and allow applicants to learn new techniques or gain access to specific instruments and/or methods not available in their own institution. Up to €2500 is available per researcher for at least 4 individuals per year. Please check the short term scientific missions section of the website for more information.

Request for information on the Action Plan for the
Muscular Dystrophies
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Over the next year, the Action Plan for the Muscular Dystrophies will be evaluated and updated by the National Institutes of Health (NIH) together with the Muscular Dystrophy Coordinating Committee (MDCC). The Action Plan, which was released in 2005, contains 72 specific research objectives, and has served as an important template for researchers and funders in muscular dystrophy. The Action Plan was designed as a plan for the entire community, with the goal of collectively identifying and addressing needs, regardless of what agency or organization had the responsibility and resources to address them.  

To help inform this planning process, the NIH and the MDCC welcome comments on the Action Plan from the muscular dystrophy community regarding accomplishments since the Plan’s approval, potential opportunities, and suggestions for new research objectives. Further information and a link to the current Action Plan can be found on the NIH website.

Comments from patient advocacy groups and research networks are extremely important. The TREAT-NMD Alliance is planning to submit a coordinated response to the request for information on the Action Plan. The date for responses to be submitted is 20 December 2013.

If you or your organisation would like to contribute to the TREAT-NMD Alliance response, please contact the TREAT-NMD coordination office in Newcastle (stephen.lynn@newcastle.ac.uk) by 1 November 2013.

8th TACT review meeting: Newcastle 2013
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TACT, the TREAT-NMD Advisory Committee for Therapeutics, is pleased to announce that the following three applications will be reviewed at the forthcoming  8th TACT meeting scheduled for 2-3 November 2013 in Newcastle, UK:

1) Jens Schmidt, PhD, University Medical Centre Göttingen: Blockade of nitric oxide-related cell stress as potential treatment for inclusion body myositis

2) Denis Guttridge, PhD, Ohio State University: NBD Therapy for Duchenne Muscular Dystrophy

3) Carl Morris, PhD, Rare Disease Research Unit, Pfizer Inc: Anti-GDF8 antibody for treatment of Duchenne Muscular Dystrophy

As with previous reviews, TACT will generate a detailed report to the applicant within 6 weeks following the meeting. A general 'non-confidential' report summary, developed in collaboration with the applicant, will be available via the TREAT-NMD website within 8 weeks following the meeting.

The subsequent TACT meeting has been scheduled for May 2014 and anyone interested in submitting an application for this meeting should send an expression of interest to the TACT secretariat - louise.johnston@ncl.ac.uk - as soon as possible.

7th European Conference on Rare Diseases and
Orphan Products - Save the Date!
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Next year the European Conference on Rare Disease and Orphan Products will take place in Berlin, Germany, between 8-10 May 2014.

The conference allows everyone from patients, to policy makers, healthcare professionals, industry, regulators, researchers and academics the opportunity to meet one another, exchange information and ideas and join together in the fight against rare diseases.

The conference boasts over 100 speakers and along with numerous professionals in attendance. Topics will include latest research, developments in new treatments and information regarding innovations in health care, social care and support at both the European and national levels. Further details can be found on the conference website in the programme section.

Abstract submission deadline is 15 December 2013.

Early registration is recommended to secure your place and also take advantage of reduced fees.

Myotonic Dystrophy Newsletter
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The UK Myotonic Dystrophy Patient registry has now over 350 patients and 60 clinicians from across the UK involved. The registry has successfully helped a number of projects in the UK and is involved in the international trial for DM1, OPTIMISTIC.

The second issue of the registry's newsletter, which is now available, summarises some of the data within the registry and also gives an insight into the developments being made in research and industry in respect to myotonic dystrophy.

Download your copy of the newsletter here.

Latin American Society of Neuromuscular Diseases launches
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SOLANE the Latin American Society for Neuromuscular Diseases aims to foster integration and collaboration in the field throughout Latin America by bringing together leading multidisciplinary experts from across the region. They aim to further develop an understanding of the scientific and clinical aspects of neuromuscular diseases (NMDs) and so improve patient outcomes.

SOLANE is not solely an academic focused organization but it wishes to bring all disease stakeholders together to ensure best practice in treatment of NMDs. The recently launched organization currently provides a comprehensive website (in Spanish) containing information for both patients and professionals alike. While SOLANE coordinates regional meetings it is also keen to organize its first Congress, which is expected to create a collaborative environment for all who attend it.

Visit the SOLANE website for further information.

Meeting report from the DMD family day in China
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2013 sees the third anniversary of the DMD Young Chinese Parents’ Group (part of the DMD Care and Support Association). After two scientific conferences in 2011 and 2012, the group recently held their first DMD family event (24-25 August 2013) in Beijing. Around 200 people from across the country, including clinicians, healthcare professionals, researchers, patients and families participated in a two-day program. The first action was to redefine the acronym DMD as, “Dear Mom & Dad” in order to dedicate the event to the parents and their boys.

This first day was a wonderful opportunity for an exchange of ideas between doctors, researchers, other professionals, families, patients and volunteers as well as for important social interactions and a chance for families to talk together. The day began with a session on doctor-patient communication. Dr. Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands) and Professor Yin Haifang (Tianjin Medical University, China) introduced DMD gene therapy and potential new treatment options. Other Chinese doctors then presented and discussed the importance of the diagnosis and treatment of respiratory complications; DMD clinical manifestations and drug treatment; Duchenne care standards; ante-natal diagnosis; opportunities for participation in a global DMD registry and the impact of multi-disciplinary teams on the outpatient treatment. This was followed by Holly Peay, from the US parent group, Parent Project Muscular Dystrophy (PPMD), who introduced their development and activities, discussed how best to work with DMD families and how to improve and support development of the DMD related research. Alongside this, a special session was held for the children attending the event which included a wide range of activities such as art projects, farm visits and outdoor movies in the evening.

During the second day, representatives from the China Rehabilitation Research Center, Beijing described how rehabilitation, massage and traditional Chinese medicine may improve the quality of life for children with Duchenne and their families.

Wang Zhen from the China DMD Care and Support Association said, “These two days passed quickly! The Association hopes to build bridges and knock down barriers for youngsters with muscular dystrophy and related neuromuscular diseases through DMD “Dear Mom and Dad”. I hope that parents will continue to become more involved and that we will arrange this kind of family day again next year. Over the last 3 years, improvements have already been achieved – for example, hospitals in Beijing and Shanghai have now started a multi-disciplinary outpatient treatment."

TREAT-NMD Alliance Conference
Past newsletters
4th October 2013
TREAT-NMD newsletter - 4th October 2013
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