29th June 2012
International Duchenne Exon Skipping Consortium
seeks patient organization members

The International Duchenne Exon Skipping Consortium (iDESC) is committed to facilitating the development of systemic antisense therapeutics for DMD, with the goal of providing access to antisense oligomer therapy to as many patients as possible, as quickly as possible.

The complexity that the many mutations of DMD presents, and the various development pathways currently being pursued, mean that open communications and harmonization of future plans to avoid duplication of effort have never been more essential.

The consortium wishes to be as open and inclusive as possible and is therefore inviting stakeholder patient organizations to become members. Application materials can be found on the iDESC website. Once you have joined, you will be listed on the membership page and included in future communications.

As the consortium progresses with its plans it understands that collaboration with foundations and patient organizations is crucial for mutual success. In the first few months the iDESC website has been online it has received numerous requests from individuals in search of DMD information and would like to be able to provide these individuals with a collection of patient organization members as an initial resource. Even though the consortium is still in its infancy, enquiries about donating to iDESC have already been received and here iDESC would like to encourage donations to be sent to a sponsoring institution of a pertinent project, research or otherwise, or indeed donate to patient organizations that are iDESC members.

This is an exciting time for antisense therapy development and iDESC hopes to add to the momentum and looks forward to hearing from potential members. If you have any questions please don’t hesitate to contact a Steering Committee Member, or visit the contact page of the website.

TACT review update
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TACT evaluated four proposals at the review meeting held on 28-29 April 2012 in Arlington, Virginia, USA, as detailed below:

  1. Fred Marin, PhD. GMP-Orphan SAS, France: Satisma: New drug formulation development program of sodium phenylbutyrate in SMA patients.
  2. 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.

The TACT reports were sent to the applicants within 6 weeks following the meeting, as detailed in the terms of reference. The available corresponding non-confidential summaries have now been uploaded to the TACT review webpage on the TREAT-NMD website. Anyone interested in the full TACT report should contact the applicants directly.

To date the TACT has held 5 review meetings, 3 in Europe and 2 in the US, and has reviewed a total of 15 program applications from both academic investigators and industry in the following areas: DMD, BMD, SMA and CMD. Of the 15 compounds reviewed 10 were from industry and 5 were from academic applications; 7 were for novel compounds and 8 were for repurposed drugs; 6 were preclinical stage applications and 9 were clinical stage applications. Therefore, after only 2.5 years, 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.

It was felt by the core committee and reinforced by the feedback received from members of TACT who have participated in a TACT review, that due to the multi-disciplinary nature of a TACT review, even individuals who are experts in the field can learn from the in-depth TACT discussions. Therefore, it was agreed to open future TACT meetings to up to 2 ‘young investigators’ who could potentially benefit from the experience of participating in a TACT review. The young investigator must be sponsored by a current member of TACT and their costs must be covered by their own institution. Dr Christopher Spurney, Children’s National Medical Center, Washington DC, was sponsored by Dr Kanneboyina Nagaraju and participated in the Arlington meeting.  Dr Spurney stated following the meeting:  “The TACT review was a tremendous learning experience. It was most educational because of the varied exposure to different fields. There were representatives on the committee from academia, regulatory, industry, foundation and patient/ parent groups and each presented different perspectives and opinions. The discussions of each application provided a diverse educational experience that will help me better formulate and design experimental protocols in the future. I truly appreciate the opportunity and strongly recommend the experience to future observers.”

The current chair of TACT, Dr Cristina Csimma, will conclude her term as chair at the end of the current review round (June / July 2012) but will remain on the core group as a drug development expert. Professor Dominic Wells will initiate a 2-year term as chair in time to start planning for the next meeting. The TACT Secretariat and core group would like to thank Cristina for her commitment to founding TACT, tireless leadership and efforts to firmly establish TACT as a key resource for the entire neuromuscular field. Her extensive experience and industry perspective has ensured that TACT operates as a time-sensitive, professional process with valuable, marketable results.

The TACT and the Secretariat would also like to gratefully acknowledge the support received from PPMD, who have co-sponsored the last 3 TACT meetings and Cure Duchenne, who co-sponsored the Arlington meeting. TACT is considering several options relating to sustainability for future meeting so as to supplement the award received via Children’s National Medical Center Washington DC, in 2011, which includes funds for staff costs and partial support for meetings over the next 2.5 years.

The next TACT review meeting will be held in Prague, Czech Republic on 27-28 October 2012. Anyone wishing to submit a proposal for this meeting should contact the TACT secretariat (emma.heslop@ncl.ac.uk) before 13th July 2012 in order to discuss this further. The deadline for applications is 27th July 2012.

CARE-NMD steering committee meets
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A Steering Committee meeting of CARE-NMD partners took place on 14th-15th June 2012 at the Musholm Bugt Feriecenter in Denmark, where participants discussed the first results of the patient survey on care and quality of life for people with Duchenne muscular dystrophy.

The survey, conducted in all seven partner countries between September 2011 and April 2012, had a very good response rate of 64% thanks to the great interest and help of patients and their families. Based on preliminary analysis of the data, partners discussed national differences (e.g. in respiratory care) and the hurdles in the care for Duchenne, as well as raising awareness of similarities such as mean age at loss of ambulation. There followed a very active discussion on the ways in which the survey results might help political lobbying for support to improve DMD care.

The newly translated German version of a video with instructions for stretches for DMD was also introduced to CARE-NMD partners (based on the English original by Parent Project Muscular Dystrophy). It can be viewed in English and German at www.care-nmd.eu/video.

CARE-NMD is now in its third and final year, and is currently actively involved in organising training for health professionals in Eastern Europe. Forthcoming events will be held in Warsaw, Poland on 9th November and Prague, Czech Republic on 14th November. In spring 2012, successful training workshops were organised in Sofia, Bulgaria and Budapest, Hungary by CARE-NMD national partners - more information can be found in the April and May TREAT-NMD newsletters.

Further information about the CARE-NMD project can be found at www.care-nmd.eu.

Japanese experts to attend Chinese DMD meeting in Beijing
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Whilst the first Chinese translational research conference held in April 2011 was a great success for all involved, it also served to highlight the wide variations that exist between care received in China and other countries. Since the conference the Chinese patient organization, China DMD Care and Support Association has actively sought to address this issue. As a result work is now underway to develop a DMD care centre in China which will include a multidisciplinary service, such as pediatrics, cardiac and pulmonary care, genetic counselling, physical and occupational therapy, and nutrition.

Experts from the Japanese National Center of Neurology and Psychiatry will attend a two day meeting in Beijing with the aim of providing hands on expert training for doctors and physiotherapists to help Chinese medical staff develop their knowledge of neuromuscular diseases. Chinese patients and their families are also strongly encouraged to attend the meeting where they will learn about DMD, the importance of clinical trials, patient registries and care standards from Japanese experts in the field.

The meeting will take place in Beijing’s General Hospital of Armed Police Forces on 10-11 August 2012.

Further details can be found on the Chinese DMD Care Association website.

CINRG scientific symposium details released
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As part of a 5-year Rehabilitation Research and Training Center Grant funded by the National Institute of Disability and Rehabilitation Research (NIDRR) the Cooperative International Neuromuscular Research Group (CINRG) has joined the Fifth Programs in Clinical and Translational Research with the NIDRR sponsored State of the Science meeting to provide an outstanding venue for translational and clinical research updates.

The two back to back meetings will take place on Saturday & Sunday, 10 and 11 November 2012, outside Washington DC.

The Scientific Symposium portion on Saturday will provide updates on several programs in clinical and translational research in muscular dystrophy and rehabilitation medicine. The NIDRR State of the Science in Neuromuscular Disorders will start on Saturday afternoon and will focus on: (1) clinical outcome measures, (2) use of registries and longitudinal epidemiological studies to develop evidence-based medicine in NMDs, (3) experience and evaluation of recent clinical trials, (4) burden of care, and (5) efforts to harmonize outcome measures and encourage translational medicine.

The goal of the conference is to reach a consensus on the feasibility, validity and responsiveness of clinical and Health-Related Outcome of Life (HRQOL) measures, specifically measures of mobility, motor function, and secondary conditions.  It is anticipated that there will be an attendance of approximately 125 including international researchers, clinicians, clinical evaluators, industry, consumer advocacy organizations/parent groups and Federal agencies.

The CINRG membership only meeting will precede these two programs. The CINRG membership meeting provides training and updates for the CINRG network. The CINRG Clinical Evaluator training session will take place on Thursday November 8th and the CINRG full membership meetings will be held on Friday November 9th.

ENMC publishes meeting report on strategic workshop
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The European Neuromuscular Centre, ENMC, recently invited a number of representatives from patient organizations, industry and its own members to discuss and formulate the future role and positioning of the organization.

The workshop which was held in Korsør, Denmark allowed stakeholder groups to separately express their views which were subsequently discussed in depth by all participants and were used to define the future priorities and strategy of the organization.

It was agreed that from ENMC's already strong position within the neuromuscular community it should strive to become more visible and also develop tools, activities and procedures that will further strengthen the patient´s voice in the future research agenda.

For further details of this workshop please visit the ENMC website.

Registration is now open for EPNS 2012
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Registration is now open for the European Paediatric Neurology Society (EPNS) research meeting which will take place in Beuggen, Rheinfelden, Germany, 14-15 Dec 2012.

Main topics for this year's meeting will be epilepsy and ataxia and these are accompanied by various working sessions. Registration and program details are now available to download from the TREAT-NMD website and early registration is highly recommended. Information about the neuromuscular diseases, metabolic and ataxia working sessions are also now available for download.

"Omics" postdoctoral position available in Nantes, France
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A one year post based at the Atlantic Gene Therapy Institute - ONIRIS in Nantes, France begins in September 2012 and covers omics study, muscular dystrophy and cell therapy has arisen.

This is a postdoctoral position available in integrative analysis of multi -omics data analyses and biomarker discovery focusing on muscle stem cell and their applications in cell therapy for Duchenne Muscular Dystrophy.

A Ph.D. in computational biology/ biology/ bioinformatics is necessary. Expertise in OMICS (particularly microarray, meta-analysis) is highly desirable. Biomarker and discovery would be considered a plus. Strong communication skills are essential for this interdisciplinary project.

For further details of this and other positions available on the TREAT-NMD website please click 'more'

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29th June 2012
TREAT-NMD newsletter - 29th June 2012