18th December 2014
Thank you from TREAT-NMD chair and vice-chair

We have the privilege to address you all personally for the Christmas edition of the TREAT-NMD newsletter, after the Executive Committee agreed to extend the period of the chair and vice-chair by one more year. We would like to take this opportunity to thank them for this vote of confidence and also for their hard work for and on behalf of TREAT-NMD. Special thanks also go to the TREAT-NMD secretariat members who keep the network running on a daily basis. It is an honour and a privilege to lead such a dedicated and enthusiastic group of people.

A lot has happened in 2014 for TREAT-NMD: The website, and indeed the newsletter, is still as popular as ever with 56,000 visitors generating 256,000 page hits this year alone and 3,500 receiving the newsletter each month.  We launched a new ‘three year action plan’ to further the work TREAT-NMD was coordinating already, but also to embark on new areas, such as coordinating efforts of next generation sequencing to identify new disease genes for neuromuscular diseases in collaboration with NeurOmics and RD-Connect projects.

Over 100 papers acknowledging TREAT-NMD were published last year! Furthermore, papers were published on TREAT-NMD coordinated efforts such as a meeting to discuss the EMA guidance for DMD trials that took place last year in London, papers on SMA and DMD registries and a collaborative paper with GSK on the economic burden of illness of DMD (which made use of the DMD registries).

Also, a new patient registry was launched for GNE myopathy. The CTSR is expanding to neurodegenerative diseases and currently holds information on more than 280 centers in over 40 countries and added the PhenoSearch facility this year. TACT reviews are still in high demand, with 5 reviews done in the last year, including the first review on X-linked myotubular myopathy and the first review on gene therapy.

Milestones were reached in the neuromuscular field as well, with Translarna being the first drug ever to receive marketing authorisation for DMD and positive results being reported for other DMD and SMA trials. Parent Project Muscular Dystrophy coordinated the drafting of a guidance document for clinical drug development for DMD (the first patient organisation ever to do this), which was submitted to FDA in June and which FDA put out for feedback in October.

For 2015 we are working hard to prepare a workshop on exon skipping for DMD hosted by EMA, organizing another TREAT-NMD conference and setting up a system for post marketing surveillance, which should also open a new chapter of work on outcome measures. We are also anticipating 2 more papers arising from the DMD registries to be published next year and are hopeful for additional drug approvals in the neuromuscular field.

Please bear in mind that all members of TREAT-NMD are part of these successes. TREAT-NMD exists because of its members who dedicate time and expertise on a voluntary basis and who are willing to collaborate and network. We would like to send a heartfelt thank you to you all and to wish you all the best for 2015.

Annemieke and Eric

TREAT-NMD and Post Marketing Surveillance (PMS)
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Post marketing surveillance (PMS) is part of the drug development process (also known as Phase IV) and is mandated by the pharmaceutical regulators (FDA, EMA and other national bodies). This is to allow for the collection of safety and efficacy data once a drug has received (conditional) marketing approval  and to assess how it performs in ‘the clinical setting’. PMS data has to be collected on every patient receiving the drug, or an agreed number of these patients, and is usually part of long-term data collection that can run for a period of about 10-15 years.

TREAT-NMD has been discussing the issue of PMS for a number of years now, and with the authorisation of Translarna in Europe, and the potential for other therapies to be available soon we have produced some information on how TREAT-NMD intends to provide a new platform for delivering post marketing surveillance in the future.

TREAT-NMD in partnership with representatives from the Care and Trial Site Registry (CTSR), TGDOC chair and chair-elect, patient organizations, academic contract research organizations (www.CINRGresearch.org), and various pharmaceutical companies have held a series of discussions to collect feedback from all participants. An advisor from the European contract research organization federation (EUCROF), introduced through Parent Project Italy, also provided feedback on how best to develop post marketing platforms for our neuromuscular community. Those discussions have shown that our joint partnership of disease experts through TREAT-NMD, CTSR, CINRG, and patient organizations is capable and well suited to develop post marketing platforms.

The regulators have expressed a preference for the development of disease specific PMS systems over drug-specific ones, especially for rare diseases.  Also, there is an increasing recognition by industry that a shared post marketing infrastructure for a specific disease group would facilitate and expedite post marketing surveillance, while conserving resources.

Setting up a disease specific PMS system is however a very complex issue with many stakeholders to be considered, including patients, patient organisations, patient registries, clinicians, regulators and the relevant pharmaceutical companies. The TREAT-NMD Executive Committee has been in active consultation with representatives of all of these stakeholders over the past year to ascertain the feasibility of developing a disease-specific PMS platform.

Disease group specific (shared) PMS platforms do not yet exist and traditionally pharmaceutical companies have set up their own drug-specific databases for the mandatory data collection. Translarna is the first drug to receive conditional marketing authorization for DMD, and is already available in some countries. Other drugs are in the pipeline for DMD and also for SMA. Therefore, there is an urgent need for a PMS system, since for Translarna, PTC will have to start collecting PMS data on their drug shortly.

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 that can not only be used for Translarna but for other drugs in the future. The consultation which has been performed indicates that TREAT-NMD has the opportunity to act as an independent third party that can bring together a public-private partnership of this kind and deliver a disease-specific PMS platform for the neuromuscular community on a national and international level.

We have prepared some Frequently Asked Questions (FAQs) and a Glossary on this subject to help to explain some of the background and put the area further into context. We also plan to follow up on this document by holding a webinar on 14 January 2015 and repeated again on 21 January. We will invite those interested to hear further about these plans and submit any questions they may have about post marketing surveillance which will be discussed during the two webinars.  

This is not an exhaustive list of FAQs but are there mainly to highlight the main area around the subject. If you do have any additional questions in the meantime that have not been answered satisfactorily in this section then please feel free to contact us.

Care and Trial Site Registry expansion in 2014
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During 2014 the Care and Trial Site Registry (CTSR) has been further expanded and updated. Started in 2007 under TREAT-NMD, the CTSR is a network that helps the pharmaceutical industry and clinical investigators select trial sites as well as helping to identify potential partners for upcoming research projects. The registry functions as a database of care and trial sites, providing information to industry and health professionals seeking specialized centres worldwide.

Earlier in 2014 a new and exciting feature of the Care and Trial Site Registry was announced which allows clinicians to upload anonymised details of unsolved cases for which they are looking for additional families. PhenoSearch means that a descriptive text and supporting images can be securely placed on the CTSR server with notification going to all registered users who can then log in, view details and make contact with the clinician if the case is of interest.  Since its launch, PhenoSearch has received 6 cases which have been accessed by members across the network many times. We hope to be able to report on the first successful ‘matches’ in 2015.

Find out more about how the CTSR has been expanded throughout 2014 by visiting the TREAT-NMD website to read the full article.

New TGDOC chair and chair-elect announced
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We are pleased to announce that the TREAT-NMD Global Database Oversight Committee (TGDOC) have now officially approved Hugh Dawkin as the chair of the TGDOC and Nathalie Goemans as a new chair-elect.

We would like to congratulate Hugh and Nathalie on their appointments! We would also like to thank Jan Verschuuren for his great work as the TGDOC chair over the last two years. With Hugh’s appointment, Jan will now step down as the chair but will remain on the committee as the past-chair.

Further information about the TGDOC can be found here.

Registration open for the first Egyptian International
Neuromuscular Conference
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Registration is now open for the first Egyptian International Neuromuscular Conference (ENMCI) which will be held in Aswan, Egypt 22-23 January 2015.

The conference is the first scientific international meeting of the Neuromuscular Unit from the Department of Neuro-psychiatry in the Egypt Air Hospital and it is expected to become an annual event.

This event, which marks the crucial start of a new era in the care for neuromuscular disorders in Egypt, will provide a unique opportunity to share scientific advances by those involved in the fields of improving care, understanding disease pathogenesis, and developing innovative treatments in neuromuscular disorders.

Further details can be found in the events section of the TREAT-NMD website.

Brazilian Neurology conference report
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The 26th Brazilian Neurology Congress recently held in Curitiba, Brazil, was attended by 4,200 people.

The main theme of the congress was “New Frontiers in Neurology” which saw over 350 speakers from across Brazil and beyond involved in 130 sessions and 13 symposia. Speakers included Hanns Lochmüller (UK), Rita Horvath (UK), Tetsuo Ashizawa (USA), Josep Valls-Solé (Spain), Roy Freeman (USA), Giuseppe Lauria (Italy) and Panayiota Petrou (Israel).

Presentations and discussion sessions surrounding the 1300 posters displayed were held with between experts and delegates.

Lecture topics included neuromuscular diseases around pathogenesis, genetics, immunology, new diagnostics tools, treatment and patient care.  Brazilian speakers gave presentations on the diagnosis and treatment of myopathies, neuromuscular junction diseases, peripheral neuropathies and motor neuron disorders.

The four day congress gave attendees a fantastic opportunity to network with colleagues old and new, creating a great and very valuable platform for the exchange of ideas.

Annual meeting of muscular dystrophy research group in Japan
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The Japanese muscular dystrophy research groups' annual meeting took place recently in Tokyo, Japan. The group consists of four clinical and basic research groups: Kimura's, Komaki's, Takeda's and Nishino's, all of which have existed for approximately 50 years. Currently these groups are supported by the grants of the National Center of Neurology and Psychiatry, Japan. The groups' focus on translational research includes: NMD registry – Remudy, the Muscular Dystrophy Clinical Trial Network (MDCTN), recent clinical developments, as well as finding diagnostic methods and new therapeutics for muscular dystrophies and neuromuscular disorders.

During the Remudy group meeting, which was led by En Kimura, the TREAT-NMD Global Registries as well as other infrastructures for rare diseases were presented and discussed. This was followed by Prof. Zheng Yi from the Shengli Hospital of SINOPEC in China who presented recent developments of the DMD in China and the Chinese NMD registry whilst stressing the importance of the international collaborations across Asia and beyond.

The four research groups are planning to meet again on 9 January 2015 when they will be joined by Matsumura's clinical research group for myotonic dystrophy, founded by the grant from the Ministry of Health, Labour and Welfare. During the meeting speakers from all groups will present the progression of their research. At this time, Madoka Mori-Yoshimura will also present an update on the Remudy-GNE registry and discuss the importance of the international harmonization with GNEM-DMP international registry led by TREAT-NMD for clinical development.

Further information can be found on the Remudy website or email remudy@ncnp.go.jp

TREAT-NMD Project Ethics Council explains 'Compassionate Use'
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'Compassionate use' is the technical term used to indicate a treatment option that allows the use of an unauthorised medicine outside a clinical study in individual patients under strictly controlled conditions. The TREAT-NMD project ethics council has generated a document to explain about compassionate use and how it relates to clinical drug development.

To find out more please visit the Project Ethics Council section of the TREAT-NMD website.

PTC Therapeutics Announces Launch of Translarna in Germany
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In early December PTC Therapeutics announced in a press release that Translarna (previously known as Ataluren) would be commercially available in Germany, the first country in the European Union to launch it. The launch follows the European Commission conditional marketing authorization, which was granted in August 2014.

Translarna is for use in patients over the age of 5 years old who are still walking and have DMD that is caused by certain genetic defects in their dystrophin gene (called nonsense mutations) which prematurely stop the production of a normal dystrophin protein. These defects lead to the creation of a shortened dystrophin protein that does not function properly which in turn leads to muscle wastage. The drug is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein.

Further information about Translarna and its conditional marketing authorization can be found on the Muscular Dystrophy Campaign website where the most commonly asked questions have been answered.

To read the full press release please go to the PTC Therapeutics website.

ENMC update - latest newsletter and call for applications
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The European NeuroMuscular Centre (ENMC) provides funding and support for the organisation of expert workshops and disseminates the outcomes through publication in the scientific journal “Neuromuscular Disorders”.

Applications are invited from researchers wishing to gather together a group of experts to discuss a particular topic. Deadline for applications is 15 March 2015 and further information on how to apply can be found on the ENMC website. Additionally, the latest ENMC newsletter looking at the second part of 2014 is now available to download from the ENMC website.

First GNEM-DMP newsletter now available
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GNE myopathy (also known as hereditary Inclusion body myopathy -HIBM) is a rare, severe and progressive muscle disease caused due to mutations in the GNE gene. The GNEM-DMP (GNE myopathy disease monitoring program) is a partnership between Newcastle University (UK) and Ultragenyx Pharmaceutical Inc. (USA) and is a program designed to improve the medical knowledge of GNE myopathy. There are two parts to the program: The patient-reported part, or online registry and the Physician reported part or the Natural History Study.

The Registry - International GNEM-DMP registry was launched on 1 March 2014 and received a number of registrants since then. Within 10 months we received over 100 registrants and according to the patients survey, the registry was positively received by the community. Based on the survey results and suggestions we have improved the registry and launched a new version in September 2014.  The improvements include translation of patient information and the consent form in to 8 languages, better navigation and user interface.

Registry statistics and scientific update - Most of the registrants provided valuable information about the condition by answering questionnaires. The analysis of this information including geographical overview, demographical data and analysis of selected clinical characteristics was included in the newsletter. The newsletter also contains an overview of the relevant papers and press releases.

We hope that further work and collaboration will help us to better understand the disease and help translational research.
More information: www.gnem-dmp.com

Fifth newsletter from the Global FKRP Registry
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The Global FKRP Registry has released its fifth newsletter and it is available to download from the registry website. The newsletters are lay friendly and used as a way to inform patients and families, as well as doctors, about what is going on with the registry and anything else FKRP-related.

Some highlights of this issues:

Registry data – some data from the registry is presented, highlighting that there are 324 patients registered, with 148 of them being genetically confirmed as having an FKRP-related condition – the largest known cohort of genetically confirmed FKRP patients.

Patient stories – there are two more patient stories available to read in the newsletter – these are also available on the registry website in the library of patients’ stories;

Research updates – relevant highlights from the WMS and an update on a new monoclonal antibody against α-dystroglycan that has ben characterised;

Sequencing of LGMD2I patients – two new sequencing projects are underway, one in the USA and one in Europe, focused on using next-generation sequencing techniques to diagnose patients with limb girdle weakness.

See all of the newsletters on the Global FKRP Registry website.

For more information on the Global FKRP Registry, including how to participate, contact coordinator@fkrp-registry.org.

Two academic positions in stem cell biology available
at University of Nottingham
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The Department of Stem Cell Biology at the University of Nottingham (United Kingdom) is now entering its second phase of academic recruitment as part of an ambitious expansion plan. This will add 2 further posts (Associate Professor and Full Professor in Translational Stem Cell Technologies) to those currently being recruited (Assistant Professor/Lecturer and Associate Professor).

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18th December 2014
TREAT-NMD newsletter - 18th December 2014