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29th May 2015
Registration for the TREAT-NMD conference is open now!

We are delighted to announce that the registration for the upcoming TREAT-NMD conference is now open and a dedicated conference website is live.

The conference will take place 4-8 December in Washington DC, USA. It will be held at the historic Cosmos Club in the DuPont Circle region of Washington DC – the area known for its many embassies, restaurants and landmarks.

The conference organizing committee has put together a very current and translational agenda. With the orphan drug development in neuromuscular disease 'heating up' there is a lot to catch up on. As in the previous years, the TREAT-NMD conference is designed with ample time for informal interactions with the speakers and colleagues. This is the first TREAT-NMD Conference to be held in the US - a testament to the increasingly global scope and impact of the network's efforts.

The number of conference participants is strictly limited to 200 so register as early as possible to secure your place.

Register for the conference.

Stakeholder meeting on exon skipping therapy development
for DMD successful
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On 29 April, more than 100 representatives from the Duchenne muscular dystrophy patient community, academia, industry and regulatory agencies attended the stakeholder meeting on antisense oligonucleotide-mediated exon skipping therapy development for Duchenne muscular dystrophy (DMD). The meeting was organized by COST Action BM1207, chaired by Annemieke Aartsma-Rus, and the SCOPE-DMD project (EU FP7, 601573), coordinated by Volker Straub, and hosted by the European Medicines Agencies (EMA).

The meeting was a follow-up to a previous workshop organized by TREAT-NMD and hosted by the EMA in 2009. The current meeting served as a platform to discuss new data on outcome measures, natural history and exon skipping in DMD, which have been collected over the past 5 years by academia, industry and the patient community. There was an open and constructive dialogue between all stakeholders and different perspectives on topics discussed at the meeting were shared. This will help the DMD field to plan for the future.

The meeting was streamed and followed online by approximately 100 participants. A recording of the live streaming will be made available in the near future. A meeting report for publication in a scientific journal is currently being drafted.

OPTIMISTIC the multi-centre trial in myotonic dystrophy type1
closes recruitment
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The largest multi-centre trial in myotonic dystrophy type 1 carried out in Europe has closed recruitment earlier than expected due to high retention rates.  Fourteen months since recruitment began more than 250 participants are enrolled at the four clinical sites; Munich, Newcastle, Nijmegen and Paris. This is a great achievement for the study but also an important step towards “trial-readiness” in myotonic dystrophy.

OPTIMISTIC, funded through the European Commission’s 7th Framework Programme, looks beyond the traditional pharmacological solutions to address the current lack of therapies that can reduce, slow down or maintain the symptoms of the condition. OPTIMISTIC is measuring the impact of a unique intervention combining Cognitive Behavioural Therapy and exercise therapy on levels of fatigue, activity and quality of life. Based on previous studies, OPTIMISTIC anticipated that retention could be a significant hurdle, however the experience so far has been very positive and OPTIMISTIC is still on course to meet its primary endpoints.

Reaching this point shows that the myotonic dystrophy community can deal successfully with the regulatory and logistical challenges of a multi-centre trial. Furthermore, patient registries and patient networks have been efficiently utilized to help identify and recruit patients. This provides an example of how carrying out research in this population is achievable for both academic and commercial researchers.

In addition, having recruited this large cohort means that OPTIMISTIC is in a good position not only to provide information on the effectiveness of the intervention but also to generate natural history data, carry out molecular and genetic biomarker research on a wide range of samples and help validate a number of potential outcome measures.

The coordinator of this project, Prof Baziel van Engelen (Radboud University Medical Centre, Nijmegen) said, “As a consortium we have exceeded expectations and are confident we will meet our primary endpoints based on the number of patients already recruited. This is a great sign not only for our study but also for future research into myotonic dystrophy. I would like to thank all of the partners and participants for their hard work and cooperation in helping us reach this milestone.”

For more information please visit the OPTIMISTIC website or contact the project manager, Juliane Dittrich:
E-mail: Juliane.Dittrich@concentris.de
Telephone:  +49 (0)8141 6252 8576

TREAT-NMD workshop: Update on standard operating
procedures and quality standards in preclinical research
for DMD and SMA
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The rationale of a clinical or a pilot trial relies on efficacy results obtained using animal models of the disease. In the case of neuromuscular diseases, it is particularly important not to waste funds and energy on clinical trials supported only by few preliminary preclinical results. With this in mind, a TREAT-NMD workshop was held to discuss the issue of quality in preclinical studies that aim to show efficacy of a drug or a treatment.

The discussion focused on the relation between animal and human outcomes, the value of common experimental protocols and guidelines for the design of efficacy studies on animal models, and the need to involve journal publishers and grant agencies in a common effort to require quality standards for preclinical studies with translational approaches. Several action items were planned to implement these goals in the future throughout the scientific community. The workshop which was attended by experts in mammalian models of DMD and SMA and a clinical expert, was funded by Duchenne Parent Project Netherlands and organized by the Swiss Foundation for Research on Muscle Diseases.

Myotonic Dystrophy Foundation - request propsals
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Two Phase Request for Proposals: Population-based US Prevalence of Mutations for Myotonic Dystrophy Types DM1 & DM2

The Myotonic Dystrophy Foundation (MDF) is pleased to announce the availability of funding under the first of a two phase request for proposals to conduct a population-based prevalence study in the United States of genetic mutations and pre-mutations responsible for myotonic dystrophy (DM) types 1 and 2 (DM1 and DM2).

Phase One: Development and validation of screening methodology (Issued)
Phase Two: Implementation of Population-based US Screen (Anticipated issue date: 4-1-16)

There will be two awards of US$50,000.

Proposal due date is 1 July.

Full details can be found here.

Myotonic Dystrophy Foundation - annual conference update
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The Myotonic Dystrophy Foundation Annual Conference will take place 18-19 September in Washington DC USA. This conference is the place where the myotonic dystrophy (DM) community come together to grow and strengthen the wider circle of people who are improving care and working together for a cure.

This year's conference, offers many new opportunities to work with and learn from policy-makers, researchers and fellow community members. At this year's conference first-time attendees will be introduced to the community at a special afternoon tea reception, there will be the opportunity to travel to Capitol Hill for a Congressional briefing introducing legislators to DM. Attendees will also have the chance to practise strategies to nurture their physical and emotional well-being at the interactive Health & Wellness University. Importantly there will be the opportunity to learn about current DM research initiatives from the researchers themselves in small group breakout sessions, with time for questions.

Further details of the conference and how to register can be found on the Myotonic Dystrophy Foundation website.

Save the date for DMD Awareness day on 7 September 2015
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The second annual World Duchenne Awareness Day is planned for 7 September 2015. Last year over 65 organisations from over 35 countries participated in this global effort to raise awareness about Duchenne muscular dystrophy. By simply launching balloons – both literally and virtually – in honor of the incredible people that live with Duchenne, last year's event helped explain what Duchenne is and how it affects lives. This year is going to be even bigger!

To expand the reach and participation of World Duchenne Awareness Day 2015, some great tools and exciting content are being developed that will help spread the word and encourage friends and family to take part.

Visit the DMD Awareness day website for further details.

Registration still open for the Myotubular Myopathy
and Centronuclear Myopathy Family Conference
in Goettingen, Germany
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The MTM-FamilienKonferenz or MTM Family conference 2015 will be held on 5-6 June in Goettingen, Germany. Attendance at the conference is free of charge for families and speakers creating a unique opportunity for those attending to meet other families, listen to renowned researchers and to get to know therapy and management measures that will help those living with Myotubular Myopathy and Centronuclear Myopathy. Physiotherapists, doctors, nurses and friends are also invited to participate.

Further conference details including the programme can be found on the conference website.

Register now for the 4th Myotubular Myopathy and
Centronuclear Myopathy Conference in Chicago
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The fourth Myotubular Myopathy and Centronuclear Myopathy (MTM-CNM) Family Conference will be held at the Hilton Garden Inn Chicago O'Hare, 24-26 July 2015.

The conference theme "Anchors & Oars: Strength for Today, Hope for Tomorrow" really pinpoints the passion to equip families with the connections and resources that will help them stay strongly "anchored" while coping with the day to day challenges--big and small-- brought by MTM and CNM. At the same time, there is much excitement about what the future may bring with regards to possible treatments.  This conference aims to help families to "grab an oar" and together move forward with hope, whether that be towards a cure, or for our families who have lost a loved one, carrying forward their legacy.

TACT update - latest non confidential reports released
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TACT evaluated three proposals at the review meeting held from 28-29 March 2015 in Dublin, Ireland, as detailed below:

1. Stefan Schaefer, Peacock Pharma, Goch, Germany:  NHE-1 inhibitor (PEA-001) for DMD

2. Florence Porte Thomé, EspeRare Foundation, Genève, Switzerland: Rimeporide (EMD 87580), a potential disease modifying drug for DMD

3. Ramon Marti, Vall d'Hebron Research Institute (VHIR), Spain: Gene therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) using a new orphan drug consisting of an adenoassociated vector carrying the TYMP gene. Phase I/II clinical trial.

The TACT confidential reports with recommendations are complete and have now been sent to applicants. The available corresponding non-confidential reports, approved by the applicants, are now available via the TACT webpage on the TREAT-NMD website. Anyone interested in the full TACT report should contact the applicants directly.

To date, TACT has held 11 meetings and reviewed 32 programme applications in several rare neuromuscular diseases. Of the 32 programs reviewed, 22 were from industry and 10 were from academia; 16 were for novel compounds and 16 were for repurposed drugs; 18 were small molecules and 14 were biologics; 16 were preclinical stage applications and 16 were clinical stage applications. 3 had received Orphan drug designation from European Medicines Agency and 3 from Food and Drug Administration.

The TACT and the Secretariat would also like to acknowledge the kind support received from CureDuchenne, Duchenne Children’s Trust, Duchenne Ireland, Joining Jack, Muscular Dystrophy UK and Parent Project Muscular Dystrophy, who have co-sponsored this TACT review meeting.

The next TACT review meeting will be held in Washington D.C, USA from 4th-6th December 2015. Anyone wishing to submit a proposal for this meeting should contact the TACT secretariat before 31 July 2015 in order to discuss this further.

Friedrich-Baur-Institute postdoc opportunities on offer
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The Friedrich-Baur-Institute (FBI) is looking for two postdocs with a strong interest in neuromuscular repeat disorders such as myotonic dystrophy to help with the formation of a new research unit.

The institute offers a highly collaborative, uniquely international culture. It fosters top quality, interdisciplinary research by promoting a vibrant environment consisting of young, independent researchers with access to graduate students and postdoctoral fellows.

The institute is seeking to recruit outstanding group/team leaders in the general area of cutting-edge molecular cell biology for translational research in myotonic dystrophy. They will also welcome applications to establish technology development oriented groups/teams, especially in the areas of RNA technologies, stem cell methods, exosome development, as well as modelling of complex dynamic biological processes.

Further details can be found in our opportunities section of the website.

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29th May 2015
TREAT-NMD newsletter - 29th May 2015
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