2nd November 2011
TREAT-NMD International Conference begins on Tuesday!

Registration is still open for our upcoming conference and there is still time to book either online or on site in Geneva.

The registration desk will open from noon on Tuesday 8th November in the Starling Hotel and Conference Centre in Geneva. The conference itself begins at 2pm in the Montana room with a opening keynote speech by Kate Bushby.

The eight sessions consist of:

  • Patient and industry forums
  • Translational research in adult NMDs
  • Natural history, clinical outcome measures and standards of care in paediatric diseases
  • Gene replacement: production and delivery of therapeutics
  • Emerging technologies and SOPs in diagnostics and biomarkers
  • Antisense technologies – strategies and successes
  • Life quality versus quality of life
  • Stem cell therapies – towards clinical trials
  • What is the future for translational research in rare diseases?

Full details of the programme and how to register can be found on the conference website.

Cure CMD and TREAT-NMD join forces to establish
common protocols for efficacy studies
in MDC1A preclinical research
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It is now one year since Cure CMD and TREAT-NMD joined forces to facilitate and encourage preclinical research on a mouse model for MDC1A, which is caused by mutations in laminin α2 (also called merosin).

A group of researchers familiar with the animal model for MDC1A, the LAMA2dy-w mouse, responded enthusiastically to the call initiated by Cure CMD and TREAT-NMD and worked hard in the last months to establish standard protocols and guidelines for efficacy studies on this model.

The results of these efforts are several documents that will be useful for future preclinical research concerning MDC1A. One document contains recommendations on the care and handling of the mice with the aim to minimize the variability in the results obtained by different laboratories because of the different handling of this fragile mouse. Additionally, five standard operating procedures were elaborated for endpoint measurements commonly used to assess the pathology of mice. They cover the assessment of peripheral nerve pathology, of inflammatory responses and protocols to examine muscle histology (H&E stain, Massone’s trichrome stain, CSA, fiber number, centralized nuclei, Feret’s diameter and fibrosis). Three additional protocols are expected to be finalized in the next months, which cover measurements of spontaneous physical activity, grip strength and blood creatine kinase. The use of standard protocols is expected to reduce variability and encourage the implementation of new tests in the laboratories. Each of those documents is the result from the exchange of know-how and the sharing of methods between different laboratories, and therefore ensures objectivity and reproducibility. All finalized protocols are free for download on www.treat-nmd.eu/sopcmd or www.curecmd.org/scientists/animal-models/dyw.

The LAMA2dy-w (now also called Lama2tm1Eeng/J) will soon be available at Jackson Laboratories as a colony. Orders can be already placed at http://jaxmice.jax.org/strain/013786.

With the mice freely available, the recommendation on mouse care and the standard protocols, preclinical research on MDC1A will hopefully increase the use of this mouse model and improve the quality of preclinical studies aimed at determining treatment efficacy.

This progress would not have been possible without the effort of Valerie Allamand, Dean Burkin, Anne Connolly, Janice Dominov, Madeleine Durbeej-Hjalt, Eva Engvall, Mahasweta Girgenrath, Jeff Miller, Kanneboyina Nagaraju, Markus Rüegg, Anne Rutkowski, Volker Straub and Raffaella Willmann.

TREAT-NMD International Conference - Industry forum in focus
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The development of medicines in rare diseases requires compliance with demanding regulations and codes of practice, patient recruitment is based on highly regulated systems for clinical trials applications, and applications for marketing authorisation go through strict agency reviews before a medicine can be placed on the market.

At 4:30 p.m. on Tuesday 8 November, an open Industry Forum will be held at the TREAT-NMD conference to highlight the specific challenges facing industry in the neuromuscular field. Discussion at the forum will cover:

  • the balance between the regulation requirement for study design and the necessities of real life;
  • the role of large multi-centre studies against the value of n=1 experience in consenting patients;
  • deciding outcome measures that will reflect real patient attainment verse scientific ideals;
  • demands on large studies for product approval.

This session will be chaired by Ed Connor from the Children's National Medical Center in the US and Joseph Irwin from Lakeside Regulatory Consulting Services Ltd in the UK.

Participants include Annemieke Aartsma-Rus - Leiden University Medical Centre and Ed Kaye - Chief Medical Officer, AVI BioPharma.

Colleagues in industry, patient organisations and clinicians are invited to attend this interactive session.

UK Muscular Dystrophy Campaign Annual Conference
features research workshop including BIO-NMD
and CARE-NMD posters
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The UK Muscular Dystrophy Campaign (MDC) hosts annual conferences for patients and families that provide updates about both care and research for all neuromuscular conditions. This year's conference took place in Nottingham, UK on 15th October 2011 and included the latest campaign and research news, workshops and advice sessions. The research workshop was one of the highlights of this year's conference. After introductory talks from MDC staff explaining the charity's approach to funding the best research and giving an update on clinical trials, the scientists who attended the conference talked about the projects they are working on and showed posters explaining their research. Conference delegates were able to browse the information on display and discuss the posters with the researchers.

Posters outlining the background and impact of BIO-NMD and CARE-NMD, two EU-funded projects, were presented at the workshop. The BIO-NMD poster described how the search for biomarkers in patients with neuromuscular disease might help speed up clinical trials, aid diagnosis and disease monitoring and replace the use of muscle biopsies in many cases. More information about the EU funded BIO-NMD consortium can be found at the project’s website: www.bio-nmd.eu

The CARE-NMD poster described this 3-year EU funded project which aims to improve the quality of care for Duchenne muscular dystrophy in seven countries across Europe. The project is evaluating current care for DMD through questionnaires to patients, families and healthcare professionals. This will allow areas where care does not meet international best-practice standards to be identified, and the reasons for this to be understood. The project will then aim to reduce gaps in professional knowledge and capability, through specialised training in DMD care delivered by international experts. More information about CARE-NMD can be found at www.care-nmd.eu.

View the BIO-NMD poster here

View the CARE-NMD poster here

Further details of the conference can be found here

Myomatrix 2012
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Myomatrix 2012 is a unique scientific conference dedicated to exploring the junction between muscle and extracellular matrix, the myomatrix, the central starting point of inquiry into underlying disease pathogenesis in the CMDs and muscular dystrophies. The myomatrix expands our understanding of traditional muscular dystrophy models with ramifications for translational therapy development across the muscular dystrophies.

The conference goal 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 interaction 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.

Registration is now open for this conference which will be held on 22-24 April 2012 in Reno, Nevada, USA.

Upcoming meetings
Past newsletters
TREAT-NMD conference 2011
2nd November 2011
TREAT-NMD newsletter - 2nd November 2011