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25th May 2012
Myotonic Dystrophy Registry launched in the UK

A new registry for individuals with Myotonic Dystrophy type 1 (DM1) in the United Kingdom, funded through a partnership between the Muscular Dystrophy Campaign and the Myotonic Dystrophy Support Group, and supported by the MRC Centre and TREAT-NMD, was launched this week. It joins a growing number of national registries for DM1 under the TREAT-NMD umbrella. The registry was officially launched at the 23rd Annual MDSG Conference, held in Newcastle upon Tyne, UK, and was well received by the Myotonic Dystrophy community. The official press release about the launch can be found on the MDC website.

DM1 is the most common adult-onset genetic muscle disease, and leads to muscle weakness, wasting, cramping, cardiac arrhythmias, excessive sleepiness, and other health problems. The new registry will allow clinicians and researchers to speed up the transition of treatments from the laboratory to the clinic by enabling them to recruit people faster for clinical trials and to better understand the condition. More information on DM1 can be found in the Myotonic Dystrophy section of the TREAT-NMD website.

The data in the registry is held securely and patients are only identifiable to those explicitly appointed by the principal investigator, Professor Hanns Lochmüller. Patients are asked to complete a short questionnaire about their symptoms and family history through a secure online system. The doctor will then be asked to complete another questionnaire with the more complex clinical and genetic details. The information collected in the registry is based on an internationally agreed mandatory dataset that is focused around the items that will most likely inform the inclusion/exclusion criteria for clinical trials. The mandatory dataset was agreed at a joint TREAT-NMD/Marigold Foundation workshop in 2009 (Thompson et al, Neuromusc Dis, 19 (2009) 860-866).

For more information about the UK registry visit the website.

There are several national Myotonic Dystrophy registries that are already running in other countries, such as Australia, Bulgaria, Czech Republic, France, Germany, Poland, Serbia and the US, and several more that are under construction. All national registries will collect the mandatory dataset as a minimum requirement. Please see the TREAT-NMD website for more details of all national Myotonic Dystrophy registries.

For further reading: A paper published in Contemporary Clinical Trials Journal highlights the need for national and international registries for Myotonic Dystrophy (Hilbert et al, Contemp Clin Trials, 22 (2012) 302-311).

TREAT-NMD Regulatory Affairs Database agrees co-operation
strategy with European Clinical Research Infrastructures
Network (ECRIN)
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The TREAT-NMD Regulatory Affairs Database, which was developed as a TREAT-NMD activity at the University Medical Center Freiburg in Germany, has been available online for 4 years and has been used 5000 times. It is a valuable source of advice to people who are involved in the planning of mono- or multi-centre clinical trials within different European countries. It contains contact data for national authorities as well as national legislation and documents from 15 European countries, European regulations and other important international documents and guidelines.

Co-operation between the ECRIN network and TREAT-NMD has been agreed upon via a memorandum of understanding. This agreement will facilitate updating of country specific information on a regular basis along with additional content from more countries.

ECRIN is a EU funded non-profit infrastructure, supporting multinational clinical research projects in Europe.

Best-practice DMD care in Bulgaria: CARE-NMD workshop report
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The second CARE-NMD Workshop for specialists involved in DMD care was held in Sofia, Bulgaria on the 4th-5th of May. Organised by local CARE-NMD consortium partners, the workshop provided expert training on DMD care, with international speakers including Dr Janbernd Kirschner (University Clinic Freiburg) and Professor Hanns Lochmuller (Newcastle University) as well as national speakers from the CARE-NMD consortium.

More than 100 Bulgarian specialists in different fields – including neurologists, paediatric neurologists, paediatricians, physiotherapists, cardiologists and pulmonologists, psychologists, representatives of patients organizations and of the State agency for people with disabilities as well as NMD specialists from Serbia and Romania attended the meeting. The Minister of Healthcare also addressed the event, and partial sponsorship was received from the pharmaceutical industry – Pfizer, GlaxoSmithKline and Sanofi-aventis - Genzyme division.

The workshop took a similar format to the recent Budapest workshop with sessions covering different areas of best-practice care for Duchenne muscular dystrophy, in particular the importance of a multidisciplinary approach to care and treatment. Areas of particular relevance to the Bulgarian audience included psychosocial care, and the organisation fo home respiratory programmes, issues which were further explored at a meeting of the Bulgarian Neuromuscular Disorders Society which immediately followed the second day of the workshop.

This meeting also discussed plans to lobby the authorities for additional support for neuromuscular care, and the approval of updated national consensus of specialists on the diagnosis, prevention and treatment of neuromuscular disorders.

Very positive feedback was received from workshop attendees, and the event strengthened connections within the neuromuscular community in Bulgaria. The organisers would like to thank all those who attended.

First FKRP registry newsletter available in German and English
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The first newsletter specifically written for patients and clinicians connected with the Global FKRP registry is now available to download in both German and English.

The registry which has been active for a year now currently stores data from 187 patients in 19 different countries around the world all of who are affected by a mutation in the FKRP gene.

The newsletter provides updates of research being currently undertaken, details of relevant clinical studies along with a focus on active patient organizations that suport the spectrum of FKRP conditions. A patient registry is only as good as the information it holds and recommendations suggest that information is reviewed, and updated if necessary, once a year and as such, national contact details are included to assist those of you on the registry.

Meeting focuses on the challenges of multiexon skipping
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In order to streamline work, prevent duplication of efforts and jointly overcome common problems, researchers working on therapeutic exon skipping for DMD meet regularly to confidentially discuss unpublished work. The most recent meeting took place in London on March 30 and focused on the challenges of multiexon skipping and systems to deliver antisense oligonucleotides to skeletal muscles. The meeting was kindly sponsored by the Duchenne Parent Project in the Netherlands.

The meeting included exon skip researchers and experts on delivery systems from different institutes in London (Francesco Muntoni, Jenny Morgan, Juliet Ellis, Steve Hart and Karen Anthony from the Institute of Child Health; George Dickson, Keith Foster and Linda Popplewell from Royal Holloway College; Dominic Wells from the Royal Veterinary College), Oxford (Matthew Wood) and Cambridge (Mike Gait) in the UK, as well as researchers from Sweden (Samir El Andaloussi from Karolinska Institute in Stockholm), the Netherlands (Annemieke Aartsma-Rus and Pietro Spitali from the Leiden University Medical Center) and France (Aurélie Goyenvalle from the Institut de Myologie and Françoise Rouault from the AFM). The next exon skipping meeting is tentatively planned for September and will focus on miRNA and serum biomarkers for therapeutic monitoring.

BIO-NMD meeting report
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A meeting of the BIO-NMD partners took place on May 9-10th 2012 in Stockholm, Sweden to discuss the progress made so far and to establish firm plans for the coming months. BIO-NMD is a 3 year, FP7-funded research project which is searching for biomarkers in people with NMDs. The project has 6 months left to run and so far results have been promising.

At the Stockholm meeting representatives from each of the 12 partners presented some of the data to come out of their work - this included several potential biomarkers which may in the future help deliver better personalised therapy approaches to NMD patients. Together, partners discussed how they can continue to work collaboratively, harmonizing their efforts and sharing knowledge, over the remaining 6 months of BIO-NMD to ensure that some of these potential biomarkers are validated and therefore prove their potential for clinical use.

Further information about the BIO-NMD project, a definition of biomarkers and regular updates on progress and publications can be found at www.bio-nmd.eu

Job opportunity: EUCERD Joint action for rare diseases
two senior positions available for 3 year tenure
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Two positions are available immediately at Newcastle University with Professor Kate Bushby in the Institute of Genetic Medicine to support the EUCERD Joint Action, the aim of which is to work in partnership with EU member states and the European Commission to improve delivery of care to patients suffering from rare diseases.

Senior Research Associate

This person will play a key role in the team coordinating the EUCERD Joint Action for Rare Diseases (EJA) and will lead on helping to accelerate implementation of the EU’s activities and recommendations in the rare disease field, and to foster exchange of relevant experience, policies and practices between the Member States and other stakeholders.

Clinical Research Associate

This is an exciting opportunity for a clinical doctor to work in developing an interest in and policies for rare diseases, ultimately to deliver better care outcomes for this traditionally neglected patient group.

For further details please visit the job opportunities section of the TREAT-NMD website.

Registration now open for 2012 Myotonic Dystrophy
Foundation Annual Conference
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Registration for the third Myotonic Dystrophy Foundation annual conference in San Francisco is underway. This year's event gives families and the medical community the opportunity to gather together to learn the latest updates on research and get information about diagnosis, treatment and daily living issues.

The conference will consist of presentations and Q&A sessions with leading DM professionals, and there will also be a resource fair focusing on registries and research studies. MDF staff and Board members will be on hand to share news about exciting new and expanded MDF programs and initiatives and how you can become involved.

Early bird deadline for PPMD conference extended to 29th May
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The early bird registration deadline for PPMD's Connect conference in Fort Lauderdale has been extended to 29th May.

The conference itself will be held from 28th June - 1st July in Fort Lauderdale, Florida.

This year PPMD will be hosting a three part series on Clinical Trials. There will be panel presentations from parents whose children are or were participating in trials, from clinicians who run the trials and from industry leaders themselves who develop the trials. The interactive panels will provide a glimpse into the future of Duchenne trials.

Further details of the conference program and how to register can be found on the PPMD website.

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25th May 2012
TREAT-NMD newsletter - 25th May 2012
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