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29th April 2016
Launch of the Telethon Undiagnosed Diseases Program

At the beginning of April the Italian foundation Telethon launched a pilot project aiming to provide diagnoses to children with nameless genetic diseases. The Undiagnosed Diseases Program (UDP) will see Italian clinical centres in Rome, Monza and Naples collaborate to genetically analyse paediatric patients with undiagnosed genetic diseases, coordinated by the Telethon Institute of Genetics and Medicine in Naples.

Patients will access the program through their physician, who will complete an online form on the Telethon UDP website. These requests will be evaluated by the Program’s clinical teams and where the absence of a diagnosis is confirmed, patients will be examined in one of the participating clinical centers. This medical examination may allow identification of a diagnosis; otherwise the patients will undergo whole exome sequencing (WES) through “family trio” analysis, with the outcome relayed to the patient via their referring physician.

The program aims to address 350-400 cases and hopes to identify the causative variants in at least 25-35% of isolated cases and in at least 40% of those with hereditary features, resolving a predicted total of 100-120 cases. The Telethon UDP team will collaborate with international programs to identify ‘second cases’, using internationally adopted tools and platforms, such as Phenotips, Phenome Central and MatchMakerExchange.

It is hoped this program will bring much needed diagnoses to patients and their families, in addition to aiding the investigation of these rare genetic diseases and the subsequent search for treatments.

Myotubular Trust marks 10th anniversary
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Myotubular Myopathy is a rare genetic muscle condition affecting mostly boys from birth. It causes profound muscle weakness, most dangerously in the muscles that control breathing and swallowing. Each year it is estimated that between 1 in 50,000 and 1 in 100,000 children are affected, with only 1% of patients surviving beyond the age of 10 years old.

A new film, featuring Myotubular Myopathy patient Matthew and his family, has been made to mark a decade of successful fundraising by the Myotubular Trust who work to change the lives of the children and families affected by this rare disease.

Set up in 2006 by the parents of patients, for the past ten years the Myotubular Trust has lead the way in both supporting families like Matthew’s and investing in research to find a treatment and a cure. Now, thanks to generous support, scientists funded by the Trust are on the verge of a breakthrough that could lead to a treatment for not only myotubular and centronuclear myopathy but other rare muscle diseases too.

VISION-DMD drug development programme receives £4.6m
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Millions of pounds have been invested into the drug development programme VISION-DMD to help children with Duchenne muscular dystrophy (DMD). The project, which involves 10 countries and is led by the John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University, received £4.6 million from the European Commission for a pioneering clinical trial into the new drug, Vamorolone.

Kate Bushby (pictured) is Professor of Neuromuscular Genetics at the John Walton Muscular Dystrophy Research Centre and one of the founding co-ordinators of the TREAT-NMD network. She said: “This project has been designed to ensure a timely and cost-effective drug development for DMD, which is highly demanded by patients, families and regulatory authorities".

The European Community Horizon 2020 project has provided funding for the four-year VISION-DMD scheme, which is the first clinical trial of its kind. It is due to working with the Collaborative International Neuromuscular Research Group, Washington US, and ReveraGen, the company who developed the drug, that this funding has been granted.

Steroids remain the main long-term treatment for DMD as they effectively reduce inflammation. Vamorolone, also known as VBP15, is an anti-inflammatory drug expected to improve muscle strength in patients without the side-effects seen in steroid treatments, such as mood swings, stunted growth and weight gain.

Dr Michela Guglieri, Principal Investigator of the trial at the John Walton Muscular Dystrophy Research Centre (JWMDRC), said: “We have established steroids as a standard therapy in DMD, but the side-effects often blunt the benefits. Vamorolone could significantly change the treatment and management of all cases of DMD. It does not represent an alternative, but an addition, to interventions currently in development".

The European Clinical Research Infrastructure Network (ECRIN) will coordinate the enrolment of approximately 100 boys with DMD in 10 European countries. Trials are expected to begin in 2017.

IRDiRC recommend both the CTSR and TACT
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The International Rare Disease Research Consortium (IRDiRC) Recommended

We are delighted to announce that the TREAT-NMD Advisory Committee for Theraputics (TACT) and The Care and Trial Sites Registry (CTSR) have been successfully approved and accepted for the "IRDiRC Recommended" label. This brings the total number of TREAT-NMD tools with the "IRDIiRC Reccommended" label to four.

One of IRDiRC's key initiatives is the creation of a label to highlight key resources which have the potential to accelerate the pace of discoveries and translation into clinical services. Platforms/tools/standards/guidelines which are "IRDiRC Recommended" must be of fundamental importance to the international rare diseases research and development community. “IRDiRC Recommended” is a quality indicator based on a specific set of criteria.

For further information on the label please visit the IRDiRC Website.

Focus On... Petra Palmgren Lindwall
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In this new feature the newsletter will highlight a member of the TREAT-NMD Executive Committee (EC) so that you can get to know them better. This month we spoke to one of our newest EC members, Petra Palmgren Lindwall:

1. Please tell us about your role / organisation / background

I'm Chairman of the Board for the non-profit organisation SMDF, the Swedish Research Foundation for Muscular Dystrophy. I've been the Chairman for over a year now. The foundation was started in 1986 by two parents of a boy with Duchenne Muscular Dystrophy (DMD) and our focus is to fund Swedish research within DMD and Becker Muscular Dystrophy (BMD), as well as keep the Swedish patient and professional community updated on the latest findings in these areas. We also participate in international conferences and networks. Our board consists of professionals, parents and DMD patients. I myself am a mother of a son with DMD who is nearly 9.

2. How did you become a TREAT-NMD Executive Committee member and what does the role involve?

Neuromuscular diseases are very complex and affect many areas in the body as well as the brain. Sweden is an innovative and research-focused country, but we are a small country and community. I felt the need to broaden my international outlook, as well as our community's, and so wanted to become a member of the TREAT-NMD committee. Once I understood there was a seat for a nominee from a patient-focused organisation, I nominated myself and was voted for in an election. The committee have meetings every month to discuss and decide on important issues involving our network. My role is to represent patient and family perspectives, as well as representing Sweden and how things are in our country: bringing that into the discussions and decisions.

3. What do you see as the biggest challenge to the Neuromuscular field (in relation to translational research)?

The timeline! We don’t have the luxury of taking time. Our patients are getting worse by the day and my own impression is that regulations for rare disease treatments are too slow, for many reasons.

4. Why is TREAT-NMD so important for the field and why should people become a member?

It's vital that we work together in areas of rare diseases. This is so we can have the best care for our patients, exchange knowledge and understanding between professionals within the area and get patient care programs out to all patients. To enable research from the lab reaches patients, we need to come together in order to ensure the best possible outcomes for our patients and families.

5. Tell us something about yourself that not many people will know?

My passion is anything on two wheels! I love old fashion Italian scooters, driving around on a sunny summer day. I have two scooters and one motorbike and hope to get a motorbike with a sidecar to take my son who has DMD out for a spin.

Neuromuscular Research Posts at Newcastle University
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The John Walton Muscular Dystrophy Research Centre (JWMDRC) based at the Institute of Genetic Medicine in Newcastle upon Tyne has a strong interest in research, diagnosis and management of neuromuscular genetic disease. The JWMDRC is currently recruiting for two positions; a Clinical Research Associate and a Research Associate.

Clinical Research Associate:

Closing Date: 17 May 2016

The JWMDRC are looking for a Clinical Research Associate to expand the team’s capacity in delivering translational research for neuromuscular diseases. You will explore clinical and translational research and to learn about drug development in rare diseases. In addition, the role will involve you participating in a range of different neuromuscular clinics across the MRC centre and gain exposure to state of the art research capabilities for neuromuscular diseases.

Essential Criteria:

Medical degree and experience in medical history taking, patient assessment and medical record keeping in accordance with GCP guidelines. The post is available full time for one year. More details and salary information are available online, for informal enquiries please contact Becky Davis.

Research Associate:

Closing Date: 11 May 2016

The post holder will undertake novel research looking at novel therapeutic interventions for neuromuscular disorders, specifically congenital myasthenic syndromes and inherited neuropathies. Tasks include designing and conducting pre-clinical studies on different mouse models and establish, performing and analysing different assessments for muscle strength and function.

The successful applicant will have experience of working with rodent models. A background in genetics, translational medicine and neuromuscular disorders would be beneficial. A PhD in a relevant discipline and a strong publication record are essential. Preference will be given to candidates with experience in neuromuscular disease.

This post is fixed term, tenable for two years. Full details, including salary information, are available online. For informal enquiries please contact Dr Andreas Roos.

German-speaking Duchenne Conference: Switzerland 2016
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Parents are extremely committed to finding out everything they possibly can about Duchenne Muscular Dystrophy (DMD) and the drugs being developed to treat it. The internet is a fantastic resource for finding the latest research and study results, yet the vast majority of websites are in English, with research reports and other publications frequently filled with technical jargon. Whilst some parents speak English very well, there are those who do not speak English or simply struggle to understand the scientific language.

Each year, Duchenne organisations arrange conferences and meetings worldwide. Attending an international conference is an incredibly informative experience, with opportunities to network amongst many different groups of people. However, attendance of such a conference is often associated with high costs for airfare, registration fees and accommodation. Therefore, a German-speaking Duchenne Conference has been arranged in Switzerland by the Progena Foundation to help German speakers with an interest in DMD.

Held in the beautiful city of Lucerne from the 2nd - 3rd of September 2016, the Duchenne Konferenz Schweiz will feature top International and Swiss speakers as well as renowned pharma companies. Aimed at parents of DMD boys, researchers, physicians and other healthcare workers, more details and the programme of events can be found on the conference website.

Places still available for 'Making Outcomes Work'
workshop - Register now!
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Places are still available for the upcoming stakeholder workshop, due to take place on the 26th May 2016 in London.

Following the successful meeting on exon-skipping therapy development for DMD (April 2015, London), this stakeholder workshop will be held at the British Library in London.  This follow-up workshop will be organised by SCOPE-DMD and BIOIMAGE-NMD, two FP7 funded projects coordinated by Newcastle University.

The workshop will focus on ongoing activities and advances in outcome measure development, focusing in particular on MRI, upper limb function and molecular biomarkers. Speakers and panel members include leading experts from industry, patient organisations, regulatory authorities and clinicians including Prof. Volker Straub (John Walton Muscular Dystrophy Research Centre, Newcastle, UK), Dr Jon Tinsley (Summit Therapeutics, Oxford, UK) and Dr Diana Ribeiro (Action Duchenne, London, UK).

You can register here: Further details of the programme and speakers are available here:

We look forward to seeing you in May!

Scientists develop new tools to measure utrophin in muscle
to aid DMD therapy
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Scientists have developed new staining and imaging tools to measure the level of the protein utrophin, in muscle biopsies from patients with Duchenne Muscular Dystrophy (DMD) and Becker Muscular dystrophy (BMD). Utrophin is an essential building block in muscle during foetal development. At birth utrophin production is stopped and is replaced by dystrophin, as part of normal healthy muscle development. Dystrophin acts as a cushion, absorbing shock during muscle contraction, and also helps to maintain the structure of the muscle. Previous experiments by scientists using mouse models of DMD, revealed that treatment with an utrophin modulator (SMT C1100) resulted in a higher amount of utrophin in the skeletal and diaphragm muscle. This rise in utrophin levels contributed to a decrease in deterioration and break down in muscle and an improved functional benefit. In the newly published study funded by Summit Therapeutics and Joining Jack, scientists were able to reliably and reproducibly measure utrophin and muscle fibre renewal in muscle biopsies from DMD and BMD patients.

The findings highlight the potentially important role utrophin plays in supporting muscle renewal, it suggests increasing this protein in DMD and BMD patients may help to reduce muscle break down, potentially increasing functional benefit. The tools developed in this research are critically important and will help in the evaluation of utrophin modulators as a potential therapy for DMD/BMD patients. The use of utrophin as a biomarker in clinical trials is promising and future research (incorporating a greater number of muscle samples) will help to extend knowledge on the relationship between utrophin, muscle fibre renewal and disease severity. SMT C1100 (utrophin modulator) has been developed by Summit therapeutics and is currently in clinical development.

Correlation of utrophin levels with the dystrophin protein complex and muscle fibre regeneration in Duchenne and Becker muscular dystrophy muscle biopsies.

Nature review reveals importance of international collaboration
in LGMD research
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A new review by Thompson and Straub highlights the importance of international collaboration in translational research of rare diseases. Recently published in Nature Reviews Neurology, the paper focuses on limb-girdle muscular dystrophies (LGMDs) and international collaborative projects to assemble larger patient cohorts, enabling the rapid translation of basic research to the clinic.

LGMDs are a diverse group of rare genetic neuromuscular conditions that usually manifest in the muscles of the hip and shoulder girdles. There are over 30 differing LGMD subtypes, many of which lack a well-defined natural history. Large-scale international collaboration projects are combining cohorts from different countries and aiming to increase the understanding of LGMD genetics: collating the clinical and genetic data required to convert current knowledge into clinical practice.

The paper reviews recent collaborations between patients, industry and academia which are essential in the translational pathway towards therapy development and clinical trials. One such project involved the Care and Trial Site Registry (CTSR), set up by the TREAT-NMD network, which provided a ready-made recruitment pathway for patients. As such the recruitment of one of the largest genetically characterized LGMD research cohorts ever assembled was made much easier, with 1000 eligible patients signing up in just 12 months. It is hoped such large cohorts will benefit LGMD diagnostic, biomarker and therapeutic research in the future.

'Limb-girdle muscular dystrophies— international collaborations for translational research' is available to read online.

The DM Care Considerations Project
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Calling all clinicians who treat myotonic dystrophy patients!

Are you someone who understands the disease and patient community? Can you spare 5 minutes to complete short survey?

The Myotonic Dystrophy Foundation (MDF), based in San Francisco, CA, is currently working with an international group of clinicians to create consensus-driven care recommendations, because standards of care do not exist for myotonic dystrophy. As part of this effort, we are surveying physicians from around the globe who treat myotonic dystrophy patients.  The survey should take about 5 minutes to complete; virtually all of it is multiple choice. There is a short section at the end where you can fill out your clinic address, and if you are one of the first fifteen clinicians to return the survey in your country, we will send out a care package of morning pastries and coffee for your local clinic team to enjoy. Your participation will help ensure that the care recommendations project is as targeted as possible, and that we can assess it thoughtfully once the recommendations are disseminated.

First DMD Drug Translarna Recommended for NHS Funding
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On Friday 15th April 2016, the National Institute for Health and Care Excellence (NICE) made a historic decision to approve Translarna for NHS funding in England. This news which has been met with widespread joy from families, healthcare professionals, researchers, and charities, means that children aged 5 and over with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation will receive access to the drug.

AFM-Téléthon call for RNA projects
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AFM-Téléthon announces the launch of its first international call for proposals for Translational Research Projects on RNA as a therapeutic target or therapeutic product.

This call will open on the 17th May 2016 to any research project aimed at accelerating promising research towards innovative therapies for neuromuscular and rare disorders, using RNA-based therapeutics or RNA as therapeutic target.

Application deadline for proposals is 28 June 2016; announcement of awards is expected by end of December 2016 – mid January 2017.

Find out more about this call

GNE Trial recruitment open
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Aceneuramic Acid (Sialic Acid) Extended Release (ER) Phase III Clinical Study to Evaluate Aceneuramic Acid in Patients with GNE Myopathy

Recruitment is 90% complete and will be finishing soon

GNE Myopathy is a very rare autosomal recessive distal myopathy, based on mutations in the GNE gene, and is also called Hereditary Inclusion Body Myopathy (HIBM), IBM2, or Nonaka myopathy. It occurs in young adults initially with foot drop (one or two sided), but leads within 10-15 years to requiring the use of a wheelchair. It is often at least initially confused at times with CMT / hereditary neuropathy.

The Phase Ill clinical study will gather more information about the safety and effectiveness of Aceneuramic Acid [Sialic Acid Extended Release (SA-ER)] in a larger number of people affected by GNE Myopathy. In a preliminary study (Phase 2), SA-ER appeared to slow upper extremity disease progression and appeared generally safe and well-tolerated, with no treatment related serious adverse events observed to date.

After enrolment, patients will be randomly assigned to a treatment (SA-ER) group in a double blinded fashion. The study will last for approximately 1 year. After the study, participants will have the opportunity to take part in an extension study where they will receive Aceneuramic Acid ER.

The study is actively recruiting participants at selected centres in the United States, Canada, France, Israel, Italy and United Kingdom and will soon be opening a centre in Sofia, Bulgaria. To view the full list of participating centres please visit the study listing at clinicaltrials.gov.

Inclusion criteria for participants

A person should be able to walk about 200 meters in six minutes without using a cane, crutches, walker or other assistive devices. Ankle foot orthoses are allowed. Generally, most people who walk while grocery shopping can walk the necessary distance in six minutes. During the screening visit, potential participants will be assessed for eligibility to participate in the clinical study. At a minimum, patients should be aged between 18-55 and have a documented diagnosis of GNE myopathy/HIBM (confirmed through genetic testing). A complete listing of eligibility requirements is available.

To find out more information about the study or if you have any further questions about participation for yourself, your patient or a friend/family member, please contact HIBM@treat-nmd.eu.

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Meeting: 'Molecular mechanisms modulating skeletal muscle development and homeostasis in health and disease'

Held in Pacific Grove, California from the 6th to the 11th of June 2016, this conference offers a unique platform for cross-disciplinary collaboration among basic and clinical scientists. Organised by the Society for Muscle Biology, the aim is to spur new advances and discoveries which can help in understanding the development and homeostasis of skeletal muscle in health and disease.

Leading scientists will give lectures on emerging topics, including the newly identified endocrine role of muscle secreted factors (myokines) and mechanisms underlying the loss of muscle with age (sarcopenia). Full details of this Frontiers in Myogenesis meeting are available on the conference website.

Conference: 'Structure and Dynamics of the Sarcomere'

Organised by the Institute of Molecular Genetics and Genetic Engineering and the Serbian Neuromuscular Disease Network, the conference will take place in Belgrade, Serbia from the 4th to the 5th of May 2016. Focusing on the function and malfunction of different sarcomeric components and proteins of striated muscles, various approaches to molecular and structural studies will also be discussed. Full details of the speakers and order of events can be found online.

Art exhibition: focussed on Myotonic Dystrophy

The forthcoming exhibition opens on 20th May 2016 at the Gallery of Modern Art, Glasgow. The exhibition will feature a re-edited version of the film 'Hazel', amongst other films, sculpture and drawings, all based on the artist's long term research into families affected by myotonic dystrophy. The exhibition runs for 6 months, with a full programme of talks and events including a full day symposium to discuss some of the issues arising from the work, on Friday 4th November.

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The Genethon International Postdoctoral Program

The Genethon International Postdoctoral Program 2016 is now open. A range of postdoctoral research positions are available for a period of three years, intended for highly motivated scientists who wish to pursue their career in the research and development of therapies for rare diseases. The deadline for applications is the 31st of May 2016.

MedGen Summer School 2016

'From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research'. This Summer School will focus on neurological disorders like Parkinson’s disease, dystonias, ataxias, and related brain disorders by analyzing genomic NGS data from patients during hands-on workshops and showing examples of how to translate research findings into the clinic.

Held in Tubingen, Germany from 25th-27th of July 2016, this 25-participant event is tailored for PhD students and PostDocs working in the field of biology, neuroscience, biochemistry, experimental medicine, and bioinformatics, as well as clinicians, particularly medical doctors at the beginning of their specialization.

The deadline for registration is May 27, 2016. For more information and the full program of events, please visit the summer school website.

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29th April 2016
TREAT-NMD newsletter - 29th April 2016
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