29th February 2012
Today is Rare Disease Day 2012!

Today 29th February 2012 marks the 5th International Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries. Right now hundreds of patient organisations from more than 40 countries worldwide are participating in awareness-raising activities converging around the slogan “Rare but strong together”. Visit the Rare Disease Day website for further details.

The TREAT-NMD Alliance Executive Committee

Last month we informed you of the newly elected academic members of the Executive Committee. Since then, the elections have been held with over 120 patient organisations from 51 different countries involved in the voting process to determine the three patient organisation representatives on the committee. Voters were asked to choose their preferred candidates from a list of 15 and the following three have been elected:

-  Anna Ambrosini (Fondazione Telethon, Italy)
-  Filippo Buccella (Parent Project Onlus, Italy)
-  Jes Rahbek (Muskelsvindfonden, Denmark)

We would like to thank Michael Rutgers, General Director of the Dutch Asthma Foundation (www.astmafonds.nl) for overseeing the election process with the patient organisations, and for his continuing support and advice to TREAT-NMD and the Alliance.

The TREAT-NMD web site has further information about all the Executive Committee members and their work at www.treat-nmd.eu/executive-committee.

The Executive Committee will hold its first teleconference meeting on Friday 9th March.

Updates from the Executive Committee will be published in future newsletters.

Clinical trial resource launched by MDC UK
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The Muscular Dystrophy Campaign has officially launched a database of clinical trials for neuromuscular conditions. This resource contains summaries of clinical trials currently in progress worldwide, written in a language intended specifically for a 'lay' audience.

Available via the charity’s website, the database aims to help patients keep their finger on the pulse of the potential treatments being trialled and of any projects recruiting participants. Clinical studies such as those documenting the natural history of conditions or devising outcome measures are also included on the website.

The summaries were written by a team of volunteer young scientists from around the UK, and edited by the research team at the Muscular Dystrophy Campaign. Over a hundred lay summaries of clinical trials covering 27 different neuromuscular conditions are available to view, with filters allowing patients to search by condition and location of the trial. Summaries of each trial provide the reader with an explanation of its aims, its potential benefits to patients, who can take part and how to get involved.

The resource will be continually updated and researchers planning clinical studies are urged to contact the Muscular Dystrophy Campaign if they would like their trial included on the website.

An update on FP7 grant applications
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At the first TREAT-NMD taskforce meeting in Freiburg in June last year, participants were informed about a number of grant opportunities under the “rare diseases” topic in the European Union’s FP7-HEALTH-2012-INNOVATION-1 call that were of potential interest to the neuromuscular field. Several groups took up the challenge of submitting proposals (either as coordinators or as partners) and successfully passed the first stage of the two-stage application process in December 2011.

The following proposals were submitted in the second round of applications on 8th February 2012. It is expected that successful applicants will be informed by the end of April 2012.

HEALTH.2012.2.1.1-1-A: Support for international rare disease research
SUPPORT-IRDiRC (Coordinator: Ségolène Aymé, Paris, France): Support for international rare disease research to serve the IRDiRC objectives

HEALTH.2012.2.1.1-1-B: Clinical utility of -Omics for better diagnosis of rare diseases
Neuromics (Coordinator: Olaf Riess, Tübingen, Germany):  an integrated European project on omics research of rare neuromuscular and neurodegenerative diseases.

HEALTH.2012.2.1.1-1-C: databases, biobanks and ‘clinical bio-informatics’ hub for rare diseases
RD-Connect (Coordinator: Hanns Lochmüller, Newcastle, UK): an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research.

HEALTH.2012.2.4.4-1: Preclinical and/or clinical development of substances with a clear potential as orphan drugs
KASAR (Coordinator: Serge Braun, Association Français contre les Myopathies, France): clinical validation of kifunensine for the treatment of rare sarcoglycanopathies.
SKIP-NMD (Coordinator: Francesco Muntoni, London, UK): Phase I/IIa clinical trial in Duchenne muscular dystrophy using systemically delivered morpholino antisense oligomer to skip exon 53.
EURODEXONS (Coordinator: Prosensa Therapeutics, Leiden, Netherlands): European Duchenne exon skipping.

HEALTH.2012.2.4.4-2: Observational trials in rare diseases
OPTIMISTIC (Coordinator: Baziel van Engelen, Nijmegen, Netherlands): an observational prolonged trial in myotonic dystrophy type 1 to improve QoL standards, a target identification collaboration.

HEALTH.2012.2.4.4-3: Best practice and knowledge sharing in the clinical management of rare diseases
RARE-bestpractices (Coordinator: Domenica Taruscio, Rome, Italy): a platform for sharing best practices for management of rare diseases.

TACT applications for review announced
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TACT is pleased to announce the following four applications that will be reviewed at the TACT meeting scheduled for 28 – 29 April, Arlington, VA, USA:

1. Fred Marin, PhD, GMP-Orphan SAS, France: Satisma: New drug formulation development program of sodium phenylbutyrate in SMA patients.
Urs Ruegg, PhD, University of Geneva, Geneva: Proposal for clinical investigation of tamoxifen in DMD boys based on results in dystrophic mice.
3. Joel Braunstein, MD, FACC, MBA, Tivorsan Pharmaceuticals, USA: Recombinant Biglycan for Treatment of Duchenne and Becker Muscular Dystrophy.
4. Paolo Bettica, MD, PhD, Italfarmaco. Italy: A two parts study to assess safety and tolerability, pharmacokinetics, effects on histology and on different clinical parameters of Givinostat in ambulant children with Duchenne Muscular Dystrophy.

According to the process TACT will generate a detailed report with program development recommendations to the applicant within 6 weeks following the meeting.  A non‐confidential report summary, developed in collaboration with the applicant, will be available via the TREAT‐NMD website within 8 weeks following the meeting (www.treat-nmd.eu/tact).

Dates for the subsequent TACT meeting have been confirmed as 27-28 October 2012 in Prague and individuals interested in potentially submitting an application should send an expression of interest to the TACT secretariat (Emma.Heslop@treat-nmd.eu) as soon as possible, and before the 27th July 2012.

With the conclusion of the first two years of service, in accordance with the TACT Terms of reference, TACT members were given the opportunity to rotate off for the next two years. Of the 59 TACT members 6 opted to rotate off. TREAT-NMD, the TACT chair and Secretariat would like to thank all TACT members for their ongoing dedication and interest in TACT and specifically thank the six departing members for their contributions.

We are also pleased to announce that TACT has received partial-funding to sustain its activities, until September 2014, thanks to a grant from the US Department of Defence via Children’s National Medical Center. Discussions are ongoing regarding co-funding and we look forward to reporting on these in due course.

If you have any queries regarding TACT or would like additional information please contact Emma.Heslop@treat-nmd.eu.

Latest update published on the biomarker
research project, BIO-NMD
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The BIO-NMD project is now in its final year. The 3 year, FP7 EU funded project is looking for biomarkers in patients with Duchenne and Becker muscular dystrophy and with collagen 6 diseases. Biomarkers are substances in the body that offer a way to measure normal or abnormal processes. Biomarkers which correlate to specific aspects of NMDs may allow clinical trials to take place more quickly, cheaply, with a smaller number of patients and provide a more sensitive way to measure effects of the treatment. They may also reduce the use of muscle biopsies, aid an earlier diagnosis, measure disease progression more accurately and allow treatments to be ‘personalised’ to more precisely meet the needs of individual patients.

A project newsletter has just been published which provides an overview of the progress and activity within BIO-NMD as well as some related news items from patient organisations. This newsletter can be viewed here: http://www.bio-nmd.eu/patient-newsletters/

Assessment of motor and process skills added to ROM
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The Registry of Outcome Measures (ROM) continues to grow. The latest addtion is a detailed record for the AMPS, Assessment of Motor and Process Skills; an observational assessment of an individual's ability to perform chosen, familiar and life relevant activities of daily living. This and a further 149 records are already freely available in ROM for use by the research and medical communities. Visit www.researchrom.com for details.

If you would like more information about ROM or would like to contribute a record to the Registry for another outcome measure, please contact ROM coordinators for assistance. You can submit records for any outcome measure for use in any NMD.

Calling all DMD researchers!
DMD Research Fund looks to expand portfolio
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The Duchenne Research Fund is looking to expand its research portfolio to help find a cure for Duchenne Muscular Dystrophy (DMD).

The Duchenne Research Fund is highly committed to fund the most relevant research proposals in relation to finding therapies and a cure for DMD and exploring every avenue that could help sufferers survive.

The Fund aims to specifically focus efforts on research related to the pathogenesis and treatment of DMD caused by duplications as well as that which can be applied in any way to the development of future therapeutic strategies for DMD.

The Duchenne Research Fund is always keen to hear from scientists and clinicians who would like to submit research proposals for its Scientific Advisory Board to consider. For further details on how to apply click 'more'

EVELAM 2011 - a report from Brazil
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The Escuela de Verano Latino-Americana de Miologia (EVELAM) or Latin American Summer School in Myology is an annual short course in myology that rotates through the countries of South America. The 2011 meeting was held in São Paulo, Brazil from 8th-10th December and provided a unique opportunity for Brazilian specialists to meet their international counterparts for interactive training and updates on advances in diagnosis and therapy of NMDs. EVELAM was initiated by Andoni Urtizberea and Norma Romero, and the local organiser of the 2011 meeting was Dr. Edmar Zanoteli.

The meeting featured a total of 20 lectures and interactive discussions of clinical cases. Broad themes included genetic diagnosis, neuromuscular evaluation, muscular dystrophies, congenital myopathies, myasthenia gravis, respiratory and general approach. Approximately 160 professional participants ranging from neurologists to physiotherapists attended the meeting and benefitted from being able to interact with attending experts.

EVELAM 2012 will take place in Buenos Aires, Argentina in December. Further details will be published when they become available.

Attending international experts -

  • Andoni Urtizberea
  • Enrico Bertini
  • Eduardo Tizzano
  • Jorge Bevilacqua
  • Norma Romero
  • Mário Médici
  • Alberto Dubrovsky
  • Ana Lia Taratuto

Attending Brazilian experts -

  • Edmar Zanoteli
  • Juliana Gurgel-Giannetti
  • Mayana Zatz
  • Umbertina Conti Reed
  • Mariz Vainzof
  • Alexandra Prufer
  • Gustavo Moreira
Registration now open for Youth Conference in Canada
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Registration is now open for YIA2012. This national conference aimed at youths with neuromuscular disorders will be an action-packed weekend in Calgary. Those attending will be participating in interactive workshops, hearing from inspirational speakers, and enjoying social evenings with lots of great entertainment.

Attendees will be able to explore options, hear about new opportunities, receive advice from people who know what it’s like to have a neuromusclar disease, and get motivated to advocate for changes that will improve the lives of people with muscular dystrophy. Delegates will also have the opportunity to tell Muscular Dystrophy Canada Board members and staff about what matters to them and how they can help you achieve your dreams.

Myomatrix registration deadline extended to 15th March
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The registration deadline for Myomatrix 2012 has been extended to 15th March.

As the name of the conference suggests this is a unique event dedicated to exploring the junction between muscle and extracellular matrix known as the myomatrix.

The conference runs from 22nd-24th April at the University of Nevada in Reno, with numbers limited to 75.

The goal of the conference is to address the myomatrix in the context of normal development and disease states to probe, dissect and highlight matrix involvement in its capacity as mediator of signaling, satellite and stem cell niche, director of cell differentiation and interaction with both the sarcolemmal membrane and the neuromuscular junction. Two key note addresses will focus on cardiac muscle matrix interactions and matrix implications beyond muscular dystrophy. The conference will lead to the construction of a myomatrix research roadmap, prioritizing both basic science and translational research inquiry and place a premium on discussion.

Please visit the Cure CMD website for further details about the conference and how to register.

Motor Neurones and Diseases of Motor Neurones, 10-12 July, Edinburgh
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The Motor Neurones and Diseases of Motor Neurones international symposium is organised jointly by the Anatomical Society and Sociedad Anatómica Española. The symposium, scheduled for 10th-12th July in Edinburgh Scotland, will bring together basic and applied motor neurone biologists to promote discussion and collaboration.

Registration opened on 27th February. Further details of the symposium, programme, venue and speakers can be found on the symposium website.

Myocon 2012 hailed a 'major success'
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The Muscular Dystrophy Association of India is delighted to announce that the international MYOCON 2012 conference was a ‘major success’. The conference held in Chennai, India on 21st & 22nd January brought together experts from round the world and India to share common experiences.

These experts shared their knowledge and views with the large number of attending delegates over the two days of the conference. Undoubtedly the highlight of the conference was the parents’ sessions when, for the first time, concerned parents got the opportunity to raise any questions, doubts and uncertainties directly with the experts. To cater for all the delegates who attended the conference from right across India questions were initially answered in English and then subsequently translated into Hindi, Malayalam, Tamil and Telugu.

The conference was inaugurated by Padmavibhushan Dr.Pratap C Reddy, Chairman of Apollo Hospitals. Mr.Mike Nithiavarnakis the Deputy High Commissioner of Britain was the guest of honour who promised to help support the growth of neuromuscular research through the Indo- British Health Initiative.

International experts included -

  • Eric Hoffman - USA
  • Kate Bushby - UK
  • Veda Vedanarayanan - USA
  • Andoni Urtizberea - France
  • Guenter Schuerbrandt - Germany
  • William McCluskey - USA

Accompanied by national experts –

  • Dr Gourie Devi - New Dehli
  • Dr Satish Khadilkar - Mumbai
  • Dr M.D.Nair - Kerala
  • Dr Mittal - Lucknow
  • Dr Gayathri - Bangalore
  • Dr Meena - Hyderbad
  • Dr Sunil Narayanan - Pondicherry
  • Dr Rashna Dastur - Mumbai
  • Dr Arjundas - Chennai
  • Dr G Kumaresan (Conference chairman)

MDA India are satisfied that this conference has helped in creating a national forum and network for research into neuro-muscular disorders whilst also demonstrating the huge amount of interest and desire for involvement in research throughout India.

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29th February 2012
TREAT-NMD newsletter - 29th February 2012