TREAT-NMD 2013 review

As the end of the year is approaching we would like to thank everyone who has contributed to the TREAT-NMD achievements this year, some of which are outlined below. Thank you!

Since 2012 TREAT-NMD has had a new governance structure via the newly constituted TREAT-NMD Alliance, with an elected 13-member Executive Committee, a new charter, and a highly successful new membership scheme which so far has attracted almost 300 individual and 100 organization members. The Alliance continues to provide an infrastructure for collaboration and conversation between researchers, patients, pharmaceutical companies and regulators. The most recent examples was a coordinated response by TREAT-NMD to the public consultation on the EMA draft guideline on the clinical investigation of medicinal products for DMD/BMD submitted at the end of August and the highly successful TREAT-NMD Alliance Conference which took place in Newcastle, UK, in October this year.

The work on the development of the TREAT-NMD tools and resources whose aim is to speed up therapy development for the neuromuscular disorders has continued in 2013.

The availability of standardized operating procedures (SOPs) to unify experimental protocols used to test the effects of new treatments in animal models is a step that has undoubtedly improved the comparability of studies from different laboratories. Over the last year there have been further developments in this area and now there are over 40 different operating procedures available to download from the TREAT-NMD website. Representing five different models of three different diseases this area has been accessed by almost 1,300 downloading over 1,700 copies of these SOPs in 2013. All the procedures are regularly monitored and updated as required. Interested parties can be kept up to date with the operating procedures by leaving their email address with us in this section.

The EuroBioBank network, coordinated by Fondazione Telethon, is now composed of 24 members. There are 100,000 samples available across the network which can be browsed via the online catalogue, with about 15,000 new samples collected annually. The 11th EuroBioBank Annual General Assembly was held in Milan on 14 October this year. The meeting focused on ISO certification for biobanks and for the entire EuroBioBank network, cost recovery options for use of biomaterials, informed consent issues, and integration with registries containing clinical data. The General Assembly agreed that the EuroBioBank network should apply to become an associated partner of RD-Connect.

2013 also saw the inclusion of Danish, Latvian, Vietnamese and Spanish translations of care guides on the website. This brings our total number of languages represented across DMD, SMA and CMD on the website to 31. All of our family guides derive from academic consensus publications that have then been rewritten in a way that patients and their families find more understandable. These articles, along with the guides themselves are available the website. In 2013, cumulatively, these have been downloaded approximately 3,000 times.

The TREAT-NMD Advisory Committee for Therapeutics (TACT) under Dominic Wells as the chair continues to go from strength to strength reviewing compounds at different stages of clinical research brought forward by both by academic and private sector applicants. To date TACT has held 8 review meetings, 5 in Europe and 3 in the US, and has reviewed a total of 24 program applications from both academic investigators and industry in the following areas: DMD, BMD, SMA, CMD and IBM. Of the 24 compounds reviewed 15 were from industry and 9 were from academic applications; 13 were for novel compounds and 10 were for repurposed drugs (1 had no lead compound); 12 were preclinical stage applications and 12 were clinical stage applications. Therefore, TACT believes that it is fulfilling its remit to be an important resource to many different groups at varying stages of the drug development pathway.

The Alliance is continuously committed to working with patients and patient organizations as equal partners in all aspects of research, and Filippo Buccella (Duchenne Parent Project Onlus) has kindly agreed to oversee a patient forum which has been developed this year. The Project Ethics Council continued to communicate and debate with one another throughout 2013. We are delighted to announce that Elizabeth Vroom is now the new Chair of the council and has taken over from Simon Woods. We would like to take this opportunity to thank Simon for all his hard work and also to Elizabeth for taking on the role.

In 2013, the TREAT-NMD affiliated patient registries have expanded both geographically and into new disease areas, such as: Myotubular and Centronuclear Myopathy (MTM/CNM), GNE myopathy and specific types of limb girdle muscular dystrophies (LGMDs). To reflect this expansion the website has been updated to include many new disease areas and a new patient registries section was launched in October. The section contains information about a wide range of neuromuscular diseases, provides links to existing registries and includes a tool kit designed to help anyone planning to setup a new registry. Registry curators from across the world attended this year’s TREAT-NMD conference including a meeting of the TGDOC chaired by Jan Verschuuren and Hugh Dawkins.

During 2013 the Care and Trial Site Registry (CTSR) was expanded to include additional neuromuscular conditions as well as, for the first time, neurodegenerative centres as part of the EU-funded Neuromics project. The registration of these additional sites began in September in collaboration with TREAT-NMD, Neuromics and the Ataxia Study Group (ASG) and will further increase the reach and scope of the CTSR. At the same time, a ‘phenotype search facility’ has been introduced to the CTSR. This will allow researchers to put out a call to registered centres for patients fitting a particular clinical profile. It is hoped that this will speed up the identification of new disease causing mutations and allow better stratification of patients. For details of this new facility and to register or update your site, please visit the CTSR.

The significance of both the patient registries and the CTSR for clinical trial feasibility and recruitment, as well as their influence on standards of care, has been acknowledged in the three papers published this year. The publications featured the development and use of several important TREAT-NMD platforms for translational research: the national DMD registries, the national SMA registries and the CTSR.

"The TREAT-NMD Duchenne muscular dystrophy registries: conception, design and utilisation by industry and academia", published in Human Mutation, describes in detail how the TREAT-NMD national patient registries for DMD were established.  It goes on to show how the registries have grown since their inception in 2007, and further highlights their success in fostering collaboration between academia, patient organisations and industry ultimately leading to increased clinical trial opportunities for patients and translating directly to improvements in patient care and treatment options. "Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe", published in the Journal of Neurology, describes the design, setup and utilisation of the TREAT-NMD national SMA patient registries. It further analyses a selection of clinical items, providing a snapshot of clinical data stratified by SMA subtype, and compares the results with published care recommendations. "The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases", published in the Orphanet Journal of Rare Diseases, describes the development of the TREAT-NMD Care and Trial Site Registry (CTSR) and its utilisation for academic research and industry enquiries.

Please visit our publications page to access our latest papers. Further TREAT-NMD related papers planned to be published next year will also appear here in due course.

In 2013, TREAT-NMD has continued to regularly reach out to the neuromuscular community. The TREAT-NMD website recorded over 275,000 page hits in the last year which was generated by 53,000 individuals visiting the site. Our monthly newsletter reaches about 3,500 people and over the course of 2013 we have written almost 110 articles to help you keep up to date with all the different aspects of the neuromuscular world. The TREAT-NMD communication platform continues to adapt and develop to keep pace with technological advancement and also cater for the needs of the projects we are involved with. By following us on Twitter it has never been easier to keep up to date and in touch with events, just search for @TREAT_NMD.

12 Apr 2017