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30th January 2015
TREAT-NMD International Conference 2015 – Save the date!

We are delighted to announce the TREAT-NMD Alliance Bi-Annual Translational Sciences Conference, which is planned to be held in Washington DC, USA, between 4-8 December 2015.

This conference will be a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network, learn and exchange ideas about translational research.

To maximize the benefit of our stakeholders getting together a number of satellite meetings and workshops are also planned.

Further details of the programme, speakers, venue location and how to register will be announced in upcoming newsletters, on the TREAT-NMD website and also via twitter @TREAT_NMD.

We look forward to seeing you in December!

Rare Disease Day highlight 2015
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Rare Disease Day takes place on the last day of February each year.

The main objective of the day is to raise worldwide awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

This is the eighth consecutive, successful year for Rare Disease Day since it was first launched by EURORDIS and its Council of National Alliances in 2008. To date, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

This year's slogan is 'day-by-day, hand-in-hand' and the day will focus on the daily lives of patients, families and caregivers who are living with a rare disease. To find out more about the day and how you can get involved please visit the Rare Disease Day website.

TREAT-NMD post marketing surveillance - webinar update
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The TREAT-NMD Executive Committee has recently consulted with representatives of all key stakeholders in the neuromuscular community to ascertain the feasibility of developing a disease-specific post marketing surveillance platform.

Indications show that TREAT-NMD has the opportunity to act as an independent third party that could bring together a public-private partnership and deliver such a platform on a national and international level. We feel this poses an exciting opportunity for the neuromuscular community as a whole to build on the existing registry initiatives to develop a PMS platform.

To help explain the background to this and also answer some of your questions we have created a post marketing surveillance section on the TREAT-NMD website that you might wish to visit. Additionally, we recently hosted two webinar presentations, the content of which were identical, to further explain future plans and also answer questions from attendees in real-time. A recording of the second webinar which lasts about 40 minutes is now available to watch on the TREAT-NMD website.

New paper highlights unequal access to best-practice care
for adults with DMD
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A new paper has highlighted unequal access to best-practice care for adults with Duchenne muscular dystrophy. The first of a series of papers using data gathered by the CARE-NMD project, which utilized the TREAT-NMD Global DMD Registries, compared care received by adults in seven European countries.

It found that access to care in line with the international consensus care considerations varied considerably between countries and depended on age, with adults receiving less comprehensive access than children. The proportion of patients who received at-least-annual heart and lung function checks decreased as patients got older. The study also found that adherence to consensus care practices was higher, information provision better, and patient satisfaction higher amongst those who attended what they recognized as specialized neuromuscular clinics.

Although it is known that care practices for DMD vary, this was the first study to focus on the experiences of adults and attempt to quantify their experience both between countries and in relation to the care received by children. Further information on the findings of the study is available on the Muscular Dystrophy Campaign website.

Report on EuroBioBank freely available for download
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A recent report published in the European Journal of Human Genetics describes the development of the EuroBioBank (EBB) network over the past decade, its achievements, and the major challenges it has already faced and expects to face in the future.

Established in 2001 the EBB network is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs).

EBB facilitates access to RD biospecimens and associated data and has recently become a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards and best practices in RD biobanking, is implementing integration with RD patient registries and ‘omics’ data, thus challenging the fragmentation of international cooperation in the field.

Read the full open access report here.

Call for Grant applications for Duchenne Parent Project Netherlands
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The Dutch Duchenne Parent Project NL (DPP NL) which stimulates research in the search for a cure for Duchenne muscular dystrophy is currently taking applications for grants.

DPP NL sponsors promising research and fellowships, faster exchange of data and international collaboration. Researchers from all countries can apply for funding for their research projects with DPP NL.

Conditions for funding

- Selection by international scientific advisory board
- Innovative research for finding a cure
- Avoidance of diarchy in research
- Multi-track policy: the widest possible range of research should be covered as it is not possible to say which research will lead to the ultimate solution
- Results should be generally available and measurable
- Selected projects will be monitored closely during their progress and researchers are required to submit progress reports
- Based on the results the scientific advisory board advises the Duchenne Parent Project annually about the continuation of sponsorship on the ongoing projects

Researchers can apply for funding for their research projects via the DPP NL website and applications need to be received by 1 April 2015.

Further details about the call such as eligibility criteria and application form can be found on the Dutch Duchenne Parent Project NL website.

First Egyptian International Neuromuscular Conference - a report
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The first Egyptian International Neuromuscular Conference ENMCI took place in Aswan, Egypt 22-23 January 2015.

This conference, the first of its kind in Egypt, brought together various stakeholders from the Egyptian neuromuscular community and beyond including adult and pediatric neurologists, physiotherapists and psychiatrists.

Speakers from around the world provided an international aspect and included Dr. Ikuya Nonaka (Japan), Dr. Ichizo Nishino (Japan), Dr. Andoni Urtizberea (France), Dr. Hanns Lochmüller (UK) and Dr. Haluk Topaloglu (Turkey), Dr. Ayse Karduman (Turkey). Disease diagnosis, management, standards of care, metabolic myopathies and outcome measures were all discussed. Local speakers also shared their experiences of the neuromuscular field throughout Egypt which was followed by discussions.

The conference highlighted the importance of early diagnosis, applying standards of care, and the benefits of working collaboratively.

Next year’s meeting is planned for 25-26 February 2016 in Sharm El Sheikh and will include a number of preconference workshops. These will make up the first year of the Middle East Myology School, which will be hosted by Egypt air hospital where international experts on muscle pathology, clinical adult and pediatric neuromuscular disorders will be in attendance.

If you are interested to find out more about this meeting please contact the conference organizing team at Dr Rasha el Sherif.

International course - Health Care Guidelines on Rare
Diseases: Quality assessment
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Applications are still being taken for a two day course which aims to promote guideline quality standards across European Member States and to support the upcoming European Reference Networks and Centres of Expertise in the development of their capacity to produce and use health care guidelines on rare diseases.

The course will provide participants with the opportunity to acquire skills necessary to appraise health care guidelines for rare diseases by using AGREE II, the international tool to assess the quality and reporting of health care guidelines, also actively involving them in the appraisal work foreseen in the project. The course will cover the following topics:

- Overview of the guideline and research recommendation databases
- Basic elements of guideline development process
- Overview of the available standards and tools for health care guideline development and appraisal
- The AGREE II tool and its application to rare disease guidelines.

The course consists of lectures and small groups work/exercises. It will be held in Rome, Italy at the Italian National Institute of Health on 23-24 February 2015.

The application deadline is 4 February 2015.

Post doctoral reasearcher required for neuromuscular unit
in Barcelona
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Applications are being accepted for a post‐doctoral researcher to join the Neuromuscular Unit which is part of the Children’s Hospital Sant Joan de Deu in Barcelona. The unit is a national referral centre for paediatric neuromuscular disorders in Spain and has over 30 years experience in clinical and translational research. The post‐holder will lead a specific part of a project aimed at developing in vitro models and biomarkers for muscular dystrophies.

Applicants must have a PhD in biology, biomedicine or related subject area along with previous experience in quantitative PCR (experience in digital PCR will be advantageous), cell culture (preferably human primary skeletal muscle and fibroblast cultures). Experience in histological techniques and immunofluorescence would be an advantage. The successful candidate will have a very good knowledge of English (knowledge of Spanish is not essential), excellent organizational skills and ability to work and write scientific reports and papers independently.

TREAT-NMD Executive Committee seeks an
academic representative member
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In accordance with the charter, the TREAT-NMD Alliance Executive Committee is seeking a new member for the Executive Committee to help with the strategic planning and direction of the Alliance.

If you are an academic and are interested in helping us to move towards better treatments and care in the neuromuscular field, then please consider becoming a member of the Alliance’s Executive Committee.

The nominations for one Executive Committee member representing academia will be requested in the next couple of months and both self-nominations and nominations by others are welcome. Nominees are expected to be or to become members of the TREAT-NMD Alliance, and provide a short supporting statement.

Further information about the call will be announced in a future TREAT-NMD newsletter and on the TREAT-NMD website.

For further information contact: info@treat-nmd.eu

TACT update
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) reviewed three applications at the 10th TACT review meeting which took place in October in Chicago, USA:

- 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)

Confidential reports have been sent to the applicants and the non-confidential summaries are now available on the TREAT-NMD website.

TACT would once again like to thank Parent Project Muscular Dystrophy, Cure Duchenne and Myotubular Trust for co-sponsoring this meeting.

The Chair and Secretariat have been reviewing applications for the 11th TACT review meeting which will be taking place in Dublin, Ireland between 28-29 March 2015.  Further details will be available in the next TREAT-NMD newsletter.

Looking forward, the 12th TACT review meeting will take place between 4-6 December 2015 in Washington DC (USA). Anyone wishing to submit a proposal this meeting should contact the TACT secretariat via louise.johnston@ncl.ac.uk as soon as possible or visit the TACT section of the website for more details of the application process.

Public consultation on application of transparency rules of
EU clinical trial regulation
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The public consultation on how the transparency rules of the European Clinical Trial Regulation will be applied in the new clinical trial database recently launched by the European Medicines Agency (EMA).

The European Clinical Trial Regulation aims to create an environment that is favourable to conducting clinical trials in the European Union (EU), with the highest standards of safety for participants. The Regulation ensures that the rules for conducting clinical trials are consistent throughout the EU. It also transforms the level of information publicly available for each clinical trial carried out in the EU by requiring transparency on the authorization, conduct, and results of the trial. The Regulation will apply to clinical trials that are registered once the Regulation is in operation (not before 28 May 2016).

The key instrument to deal with clinical trials in a transparent way is the new clinical trial portal and database. It will be used for submission and maintenance of clinical trial applications and authorizations within the EU. It will serve as the source of public information on the clinical trial applications assessed, and all clinical trials conducted in the EU. According to the Regulation, EMA is responsible for the development and maintenance of the portal and database, while the authorization and oversight of clinical trials will remain with the EU Member States.

Comments need to be submitted by 18 February 2015.

Further details of the consultation and how to submit comments can be found on the European Medicines Agency website.

Record number of medicines for rare diseases recommended
for approval in 2014
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In 2014 the European Medicines Agency (EMA) recommended the highest number of orphan designated medicines for marketing authorization in a single year. Out of the 82 medicines recommended for human use, 17 are intended for the treatment of a rare disease, providing therapies for patients who often have only few or no treatment options.

Among them is Translarna the first medicine for the treatment of Duchenne muscular dystrophy which has been granted conditional marketing authorization.  Conditional marketing authorization is a pathway that has been put in place place to potentially speed up market access for medicines that fulfill unmet medical needs but for which comprehensive data cannot be provided at the time of application.

Find out more about the 2014 EMA drug recommendations by visiting the European Medicines Agency website.

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30th January 2015
TREAT-NMD newsletter - 30th January 2015
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