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31st March 2017
RD-Connect, EURenOmics and NeurOmics Outreach Day

Invitation to Joint Outreach Day

Rare Diseases affect millions of people in Europe, an estimated 8% of the general population, and consume 20% of health care budgets. They are chronic, disabling, often life-limiting, usually without a cure or an effective treatment, and burden affected people and their families. The European Commission, patient organizations and others have recognized the specific need for coordinated research into Rare Diseases and joined forces through the International Rare Disease Research Consortium (IRDiRC). Flagship funded projects RD-Connect, NeurOmics and EURenOmics started out in 2012 to develop better diagnosis and treatment for Rare Diseases through cutting-edge research, in particular the revolutionary -omics technologies. On behalf RD-Connect, NeurOmics and EURenOmics you are invited to attend a rare disease outreach day on 3rd May in Berlin, Germany. The venue will be Ramada Hotel Berlin Alexanderplatz.

The aim of this day is to bring together stakeholders from the rare disease community to share the value of the tools created and the knowledge generated through these projects. In particular to discuss how their utility can grow beyond the original scope and interact with other organisations and infrastructures in order to make an even larger impact on the field of rare diseases. The day will provide lots of time for discussion and interaction with researchers, policy makers, pharmaceutical representatives and patient organisations.

The day will focus on three main themes:

This session will explore the current trends in data sharing, as Rare Disease data is often fragmented, siloed and inaccessible for research. The session will focus on the integrated genomics analysis platform, and other data sharing mechanisms, tools and requirements developed by RD-Connect and how this has been utilised to improve diagnostics and therapy. Discussion will look towards future challenges, both the technical and the legal, ethical and social implications of increased data sharing.

Genetic testing has an increasing role in diagnosing rare disorders and is important for genetic counselling, carrier testing, prenatal diagnosis, preimplantation genetic diagnosis (PGD), identifying risk factors and may be useful for determining appropriate treatment.  With the availability of Next Generation Sequencing (NGS) techniques (such as disease-specific multi-gene panels, whole exome sequencing [WES] and whole genome sequencing [WGS]) the diagnostic yield of genetic testing has significantly improved. The discussion will focus on gene discovery, yet undiagnosed patients and the next frontiers in Rare Disease diagnostics.

This session will discuss the recent advances made in -omics research into the development of genetic and other targeted therapies. Recent years have seen new drugs and approaches making their way from the lab to the patient in rare neurological and renal diseases. This is an effort requiring patients, academics and industry. In this session we will reflect on past efforts to identify success factors but also our mistakes, for the benefit of future therapy development in Rare Diseases.

There is no charge for attendance but we ask that you register here: Registration Page

A draft agenda is available here: Draft Programme

Please don’t hesitate to get in touch if we can provide any more information.

What is Limb Girdle Muscular Dystrophy type 2B
(LGMD2B)/Miyoshi myopathy?
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The Jain Foundation have recently created a video about Limb Girdle Muscular Dystrophy type 2B/Miyoshi Myopathy (LGMD2B). The video is intended for an audience who are unfamiliar with the disease and it features patients talking about their experiences.

LGMD2B is an autosomal recessive form of limb girdle muscular dystrophy (LGMD). The most common age that the onset of muscle weakness begins usually late teens-early 20's. The cause of the disease is  mutations within the dysferlin gene, which consists of instructions to produce a protein important to the muscle fibres.

The Jain Foundation is a non-profit foundation whose mission is to cure muscular dystrophies caused by dysferlin protein deficiency, which includes the clinical presentations Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1). The foundation is privately funded and does not solicit funding from patients or other sources.

The Foundation's focused strategy includes funding and actively monitoring the progress of scientific research projects in key pathways towards a cure, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating LGMD2B/Miyoshi patients about their disease and helping them with their diagnosis (e.g., funding dysferlin protein and gene mutational analysis).

Find out more about LGMD2B/Miyoshi myopathy from this YouTube video.

Web Event for Aligning Incentives for Sharing Clinical Trial Data
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New England Journal of Medicine have now opened registration for the Web Event, Aligning Incentives for Sharing Clinical Trial Data. The event is an open conversation among clinical trial stakeholders who are looking to identify sustainable solutions for responsible sharing of data. The event allows individuals to engage with leading experts in moderated Q&A sessions and you are able to share your perspective in online working groups.

From the event you can gain valuable insights including:

  • Practical advice on data centre requirements before, during, and after the clinical trial
  • Expert panel discussions of key issues such as data reproduction, secondary analyses, and reward systems
  • Lessons learned from the SPRINT Data Analysis Challenge, a real-life data sharing example
  • Explore funding organizations' viewpoints on sharing clinical trial data

The event will be taking place between the 3rd of April 2017 - 4th of April 2017. The event will feature Co-Chairs including Jeffrey M. Drazen, Isaac Kohane, Matthew Might and Marc Pfeffer. There will also be featured speakers including Barbara Bierer, Robert Califf, Gary H. Gibbons and many more.

Registration, the full agenda and a list of all the featured speakers are available on the website.

TREAT-NMD Conference 2017 - Programme Now Available
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Further details of the conference programme (including sessions titles and confirmed Chairs) is now available on our dedicated conference website - to view please click here. Our panel of internationally-recognized speakers will shortly be published, so please keep visiting our site for updates.

To take advantage of our early bird rates please click here.

Article on SMA stakeholder workshop featured in
The Lancet Neurology
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An article describing the recent SMA stakeholder meeting has been published in The Lancet Neurology.

The meeting was co-organised by SMA Europe, the European Medicines Agency, and the TREAT-NMD Alliance. Topics discussed included variability of standards of care; need for developing outcome measures based on what patients find important; collecting natural history; and identifying and validating appropriate tools for efficacy assessment, reflecting objective and clinically significant outcomes. It was noted that similar topics were discussed during the Duchenne stakeholder workshop.

Other topics were more specific to SMA, including the choice of appropriate controls in clinical trials, the burden of illness (including trial participation). The use of placebo in trials of SMA was extensively discussed, and it was recognised that, for SMA type I patients in homogeneous populations with a short lifespan and a well-characterised disease progression, use of a placebo control might not always be required if a large therapeutic effect is expected, and single arm trials might be acceptable. However, randomised placebo-controlled trials might be necessary for disorders such as SMA type II and type III, due to variability in clinical features and disease progression in those patients.

To download the full article please click here.

Myofibrillar Myopathies: New Perspectives from Animal Models
to Potential Therapeutic Approaches
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Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers.

MFMs are a part of a group of muscular dystrophies that affect muscle function and cause weakness. It primarily affects skeletal muscles; the muscles that the body uses for movement. MFMs seem to share common histological characteristics which include progressive disorganization of the interfibrillar network and protein aggregation. There is currently no treatment available for MFM.

However, there are first clinical symptoms which have been associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC, and BAG3) primarily involved in MDM and defining the origin of this pathology. Mechanisms determining the aetiology of the diseases remains unclear, however, several research teams have developed animal models from invertebrates to mammalians species.

These different models often recapitulate human clinical symptoms, therefore, they become useful for more in-depth studies to understand early molecular and progressive mechanisms determining the pathology.

Registration Now Open for the First International Conference
on Imaging in Neuromuscular Disease
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Registration is now open for the First International Conference on Imaging in Neuromuscular Disease which will be held at the Langenbeck-Virchow-Haus in Berlin from the 19th - 21st November 2017.

The conference programme will feature internationally-recognized invited speakers including Andrew Blamire, Carsten Bonnemann, Pierre Carlier, Bruce Damon, Kieren Hollingsworth, Hermien Kan, Richard Lerski, Martin Meyerspeer, George Radda, Fritz Schick, Volker Straub, Gustav Strijkers, Giorgio Tasca, Krista Vandenborne and Felix Wehrli and will highlight developments and advances in all aspects of muscle imaging with sessions on Diagnostic Muscle Imaging, New Imaging Techniques and Quantitative Muscle Imaging.

Young researchers and trainees are encouraged to attend and participate. Selected abstracts will be featured for platform presentation during the sessions and all posters are eligible for poster awards.

Early bird registration is now open until the 5th May 2017. Fees range from €200 for academics/PhD students to €350 for Industry participants. The cost per person registered will cover all costs associated with the meeting including the provision of conference material, coffee breaks, lunches, poster sessions, the welcome reception and the conference dinner.

To register please click here.

For a draft programme please visit here.

You can find further information on the venue, where to stay and how to get to the meeting on the conference website. To discuss sponsorship opportunities and to receive a Sponsorship Brochure for this conference, please contact Olav Veldhuizen (olav.veldhuizen@ncl.ac.uk)

FDA Fast Track Designation for Vamorolone: A Dissociative
Steriod for the Treatment of Duchenne Muscular Dystrophy
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Vamorolone (VBP15) under development by Reveragen Biopharma Inc. has been granted Fast Track designation for the treatment of DMD patients by the U.S. Food and Drug Administration (FDA). The treatment is being developed as a replacement for existing glucocorticoids, not as an add-on therapy. The VISION-DMD clinical trial program for vamorolone is currently enrolling boys with DMD into phase 2a clinical trials in US, Canada, Australia, Sweden, UK, and Israel.  Phase 2b trials are expected to start later this year. The Fast track designation can speed up review of the efficacy and safety data for vamorolone in boys with DMD, potentially leading to more rapid regulatory approval.

“We are excited about this new development in our discussions with FDA”, said Eric Hoffman, Ph.D., CEO of ReveraGen.  “We hope that our innovative clinical program in DMD, with extensive use of pharmacodynamic biomarkers, will lead to a rapid read-out of drug effect”.

The vamorolone pre-clinical and clinical programs have used a Venture Philanthropy model, funded through collaboration with international stake holder non-profit foundations and governments and industry. The current clinical program is supported by the National Institutes of Health (NIAMS, NINDS) and the European Community Horizon 2020 program - please visit this link for further details.

Vision-DMD:  This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 667078 and the US National Institutes of Health under grant agreement NINDS R44 NS095423.

Events and Meetings
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Symposium: Muscle-Bone Deficits in Chronic Neuromuscular Conditions

15 June 2017

Glasgow, UK

This one day interdisciplinary symposium organised by the Developmental Endocrinology Research Group, University of Glasgow with support from Action Duchenne and Muscular Dystrophy UK aims to bring researchers, clinicians and therapists together to focus on muscle-bone impairment in people with neuromuscular conditions in particular Duchenne Muscular Dystrophy. Registration is now open for interested healthcare professionals and further details about this meeting including the scientific programme can be found by following this link.


Action Duchenne International Conference 2017

10 - 12 November 2017

Birmingham, UK

Action Duchenne’s 15th International Conference will be 2.5 days for families, young people and experts to go through all aspects of translational Duchenne research, clinical trials, standards of care; as well as support, education and independence. Registration is now open and early-bird rates are available, please click here for further details.

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31st March 2017
TREAT-NMD newsletter - 31st March 2017
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