unsubscribe | view this newsletter online | full newsletter
27th May 2016
New article describes 'Design, set-up and utility of the UK FSHD patient registry'

An article published in the Journal of Neurology describes the establishment of a UK registry for Facioscapulohumeral Dystrophy (FSHD) patients designed to collect information that may identify participants for clinical trials. The authors, Teresinha Evangelista and colleagues, focus on how the patient-initiated UK FSHD Registry has been invaluable in recruiting people to take part in research that will aid the development of future therapies.

Despite being one of the most common neuromuscular disorders, FSHD remains a rare inherited disease estimated to affect 1 in 15,000 people. Currently, no treatments exist which can halt or reverse the progression of FSHD. The development of such treatments has been hindered by difficulties in recruiting sufficient numbers of well-characterised patients, given the rarity of the condition. It is hoped that a national registry will help to overcome this hurdle.

Funded by Muscular Dystrophy UK and developed under the umbrella of the neuromuscular network TREAT-NMD, the UK FSHD patient registry contains large amounts of accurate information from 640 FSHD patients. A significant cohort of patients are interested and able to participate in future clinical research, with the registry already enabling the John Walton Muscular Dystrophy Research Centre (Newcastle) to recruit 70% more participants than would have been possible through local contacts alone.

By asking patients to provide the majority of their data through electronic communication, the article reveals it has been possible to identify a large number of patients with FSHD in the UK in a short time frame and with limited resources. The UK registry has also aided the recruitment of patients for a natural history study of infantile-onset FSHD, with the longitudinal analysis of patient-related outcomes expected to provide much-needed baseline information for future trials.

It is now hoped that an internationally-agreed core dataset will enable the establishment of a ‘Global FSHD registry’, instrumental in sharing and exploiting data globally to advance the research and development of treatments, therapies and care for all those diagnosed with FSHD.

Reference: Evangelista, Teresinha et al. "Design, Set-Up And Utility Of The UK Facioscapulohumeral Muscular Dystrophy Patient Registry". Journal of Neurology (2016): n. pag. Web.

Re-introducing the Myotubular and Centronuclear
Myopathy Patient Registry
back to top    

Accelerating the pace of research and treatment for MTM and CNM

The Myotubular and Centronuclear Myopathy (MTM and CNM) Patient Registry re-launched on 7 May at the European Family Conference on Myotubular and Centronuclear Myopathies and is now accepting new online registrations.

The registry is an international, disease-specific registry for patients with a confirmed diagnosis of Myotubular Myopathy or Centronuclear Myopathy. The genes currently known to cause these conditions are MTM1, DNM2, BIN1, RYR1, and TTN. It was started in 2013 by the Myotubular Trust, and in 2015 was handed over to the Registries Team under Professor Hanns Lochmüller at the John Walton Muscular Dystrophy Research Centre in Newcastle.

Still funded by the Myotubular Trust, the registry has been redeveloped using the Rare Disease Registry Framework (RDRF) from Murdoch University. The RDRF system has a password-protected patient-facing front end, meaning that patients can consent online, upload documents such as genetic reports, and log in to update their details at any time. The system also has the capacity for password-protected clinician access to validate or add to patient reported data, and for registries to be offered in multiple languages. The MTM and CNM Patient Registry currently has 156 members from 22 different countries; consisting of 106 patients (24 self-reported, 82 parent/guardian reported), 20 deceased patients, and 30 female carriers. It is now open for new patient registrations, and it will soon be accepting new registrations of female carriers and of deceased patients.

The consent information and registry questions will be available in English, German, French, Spanish and Italian. More information about the registry can be found on the website, or by contacting the Registry Curator Jo Bullivant

TREAT-NMD Executive Committee Member - Yuriko Oda
back to top    

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

I am president of PADM, Patients Association for Distal Myopathy, a non-profit organization that was established in 2008. Distal Myopathy is a progressive rare disease that induces muscle weakness. PADM aims to facilitate the development of new therapeutic drugs in Japan, provide healthcare devices and information to those with Distal Myopathy.

In April 2008, PADM initiated a campaign that resulted in the delivery of approximately 2.04 million signatures to every Minister of Health (Labor and Welfare Ministry) in May 2014. This campaign led to the registration of distal myopathy as a designated rare disease in Japan in 2015. In March 2015, PADM was awarded the grand prize of “Google Impact Challenge” in Japan, for its project called “Let’s join together to create a Barrier Free Map.”

In 2002, I was diagnosed with GNE Myopathy (estimated year of onset of illness 2000) and I use my electric wheelchair to get around. I am married and have a son. In the fall of 2010, I undertook studies about the welfare system at Egmont Højskolen in Denmark. My hobby is to travel and search for barrier free and accessible places, including the use of public transportation in Japan and overseas.

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

I was elected to become a TREAT-NMD Executive Committee member last October and attended the TREAT-NMD conference in Washington, D.C last year (December). I feel that each country has to focus on how they can better work together, especially in Asia and I see my role in contributing to this target. Medical specialists and researchers are making remarkable advances towards the development of treatments, and TREAT-NMD desires to support activities that foster awareness and scientific breakthrough. We strongly believe that by working together we can help to promote and support new treatment development that will benefit patients in the neuromuscular community.

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

The treatment development process is very difficult in the neuromuscular field and involves several steps including scientific research which is also challenging. However, PADM is very happy that collaborations with various partners including pharmaceutical companies are advancing knowledge and potential therapeutic treatments for GNE Myopathy and other neuromuscular conditions. Thus, patients may potentially one day be able to take medicine to treat their condition wherever they live.

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

The TREAT-NMD alliance brings together many experts including doctors, researchers, pharmaceutical companies, and patients, which is important for rare diseases such as neuromuscular conditions where there are only small numbers of patients. The TREAT-NMD alliance helps to ensure that opinions from within the neuromuscular field are voiced. I and many other patients do not just want to sit waiting for changes to policies and guidelines etc. We want to be involved and help make changes now, that impact everyday life for patients all around the world in the neuromuscular community.

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

I sometimes find it difficult to reach destinations, particularly if the route involves navigating curbs, so I am posting movies “Wheelchair Walker” on YouTube and Facebook, that have come from my own experience of getting around.

I am determined that I will challenge all things with conviction, so that people who are happy can live a life in which they are contributing to the lives of others.

Yuriko can be seen "in action" here in a T.V interview about developing her innovative app which helps wheelchair users to navigate around Japan.

The origin of heart dysfunctions in myotonic dystrophy identified
back to top    

An international team, including French researchers at Inserm, CNRS and the University of Strasbourg, is lifting the veil on the molecular mechanisms causing heart dysfunctions in myotonic dystrophy, a genetic disease affecting 1 in 8,000 people. Their new study, published in Nature Communications, could contribute to discovering a treatment.

Myotonic dystrophy, also known as Steinert disease, is the most common adult form of muscular dystrophy. Patients affected by this genetic condition suffer from wasting of skeletal muscles as well as arrhythmia and other cardiac dysfunctions (which are the second highest cause of death in the disease). This is a particularly debilitating disease, for which there is currently no treatment. Myotonic dystrophy is due to a mutation leading to the expression of RNA containing long repetitive sequences of the CUG trinucleotide. These mutated RNAs accumulate and alter regulation of alternative splicing of numerous genes. Despite the significance of previous research into this disease many things are still not fully understood, including for the origin of arrhythmia and other cardiac dysfunctions.

In this new study, Freyermuth and colleagues have identified new splicing alterations in messenger RNA from heart samples of affected patients. Among these many alterations, biologists have established that those relating to the cardiac sodium channel (SCN5A) were fundamental to understanding the cardiac dysfunctions of these patients. Scientists then clarified the molecular mechanisms leading to the alteration of SCN5A in these patients. The researchers are hoping that this breakthrough will give a fresh boost to research into this rare disease.

Reference: Freyermuth, Fernande et al. "Splicing Misregulation Of SCN5A Contributes To Cardiac-Conduction Delay And Heart Arrhythmia In Myotonic Dystrophy". Nature Communications 7 (2016): 11067. Web.

Neurologists uncover new genetic cause of
Charcot-Marie-Tooth Disease
back to top    

Charcot-Marie-Tooth (CMT) disease is a family of inherited disorders of the peripheral nervous system, affecting approximately 1 in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes. New research from the department of Neurology at the Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia recently spanned the globe to uncover a new genetic cause of CMT1. Their findings are published in Brain.

Their findings expand the number of genes known to cause CMT1, further helping neurologists and patients find the genetic underpinnings of their neuropathy. CMT disease is a progressive debilitating neurodegenerative disorder that strikes in the second or third decade of life. This disease results in numbness and weakness in the hands and feet. There are two categories of CMT: those caused by the loss of axons in the peripheral nerves (CMT2) and those characterized by a malfunction in the Schwann cells that make up the myelin sheath, the protective coating that surrounds the nerve fibers and allows them to conduct nerve signals at high speeds (CMT1).

Motley and colleagues studied a father and son with CMT1 who did not carry a mutation in any of the five genes known to cause CMT1. The father's parents did not have the disease, suggesting that a new random mutation occurred, not shared by either parent, which he then passed on to one of his three sons. Through complex genetic sequencing of the father's 20,000 genes, the team was able to identify 49 mutations that could be the cause of the pair's CMT. One mutation, a change in the peripheral myelin protein 2 gene (PMP2), emerged as the most likely culprit. PMP2 encodes a protein that transports fatty acids, which are the building blocks of the myelin sheath and known to be one of the most abundant proteins in peripheral nervous system myelin. Further testing of the father's living siblings, parents and two other sons showed that he and his one affected son were the only family members to carry this mutation. This was strong evidence that mutations in PMP2 cause CMT1, slowing nerve conduction and resulting in weakness and numbness in the hands and feet.

Reference: Motley, William W. et al. "De Novo PMP2 Mutations In Families With Type 1 Charcot–Marie–Tooth Disease". Brain (2016): aww055. Web.

International GNE Myopathy Registry Newsletter
4th Edition Now Available
back to top    

The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its fourth newsletter and it is available to download from the registry website.  The newsletter is used as a way of informing patients and families, as well as doctors, about what is going on with the registry, as well as containing updates from the study partner on anything else related to GNE Myopathy.

This fourth issue contains the following articles:

• GNE myopathy Research and Clinical Trials with ManNAc at the US National Institutes of Health

• Patient Organisations and What They Do

• The Importance of Patient Advocacy for Rare Diseases

• Aceneuramic acid Phase 3 Clinical Trial Update (Ultragenyx) - New sites are now open

• GNEM Registry Update

• Mobility and Use of Wheelchairs/Scooters in Registry Participants

• Participant Story: ‘My Journey So Far’ – Mark

All our previous registry newsletters can be found on the International GNE Myopathy Registry website. For more information on the GNEM-DMP Registry, including how to participate, please contact us via email.

TACT meeting reviews 3 applications in Barcelona in April 2016
back to top    

The TREAT-NMD Advisory Committee for Therapeutics (TACT) recently held its 13th meeting (30 April – 1 May 2016) in Barcelona, Spain. The TACT core group gathered on Friday to discuss the running of the committee which continues to attract more interest from applicants. Also on the agenda was the important expansion of TACT to cover therapy development in amyotrophic lateral sclerosis (ALS). Applications in this area are now being encouraged.

Saturday and Sunday brought together 19 multidisciplinary members of the TACT committee as well as the secretariat. We also welcomed 4 observers who wanted to learn more about the successful model that TACT follows.  During the meeting the TACT members discussed 3 proposals submitted by USA applicants. Within 6 weeks of the meeting the committee will generate a report providing recommendations to these applicants and a non-confidential summary of each will be published on the TREAT-NMD website by the end of June.

The proposals reviewed on this occasion were:

1. Use of Simvastatin as a potential treatment for Duchenne muscular dystrophy – Dr Jorge Quiroz, Solid Biosciences, USA

2. Development of the hematopoetic prostaglandin D synthase inhibitor, GSK3350916A, for the treatment of Duchenne muscular dystrophy – Dr Patrick Eidam, GlaxoSmithKline, USA

3. MKPD-1, a selective modulator of PPARdelta, for the treatment of Duchenne muscular dystrophy – Dr George Mulligan, Mitobridge, USA

Plans are already underway for the next meeting which will be held from 29-30 October 2016 in Miami, USA. Interested applicants should contact the TACT coordinator, Cathy Turner as soon as possible to discuss submission in time for this meeting.

3rd European Conference on Clinical Research
back to top    

The third EUCROF International Conference on Clinical Research will take place in Prague, Czech Republic on 17-18 October 2016. With regulatory authorities, pharmaceutical industries, contract research organisations, patient associations, and academic groups all represented, this event is a great opportunity to learn directly from the protagonists about the "Quo vadis" of clinical research in Europe.

Known to facilitate interaction between all stakeholders, speakers and participants by encouraging lively Q&A sessions without cultural barriers, the EUCROF Conference represents a great opportunity to network with all players involved in drug and device development.

The EUCROF Conference will cover a number of interesting topics and create, for two intense days, the best possible conditions for knowledge transfer and cultural exchange.

Registration is open now, click here to read the registration guidelines and access the Online Registration Form. Benefit from the early registration rate by registering before 27 July 2016.

STRIVE Awards: Final call for DMD applications
back to top    

The PTC Therapeutics grant awards program, 'Strategies to Realize Innovation, Vision and Empowerment' or STRIVE, is designed to provide grants to patient advocacy organizations interested in developing unique and collaborative programs that will meet the needs of patients with Duchenne muscular dystrophy (DMD), as well as increase the visibility of the disease. PTC are committed to continuing their support of organizations that are making a positive difference in the lives of those affected by Duchenne muscular dystrophy and opened the application process for this year in February.

Each submission must provide a clear, brief statement that describes the idea, unmet need, or challenge your organization seeks to address and state the overall goal of the project, along with the specific steps necessary to achieve that goal. Each proposal will be reviewed, scored, and ranked according to the innovation, vision and empowerment offered by the project.

Detailed information about the submission process as well as an application cover sheet is available here. The deadline for applications for the STRIVE Awards for the DMD community will be 31 May 2016. Recipients will be announced in conjunction with World Duchenne Awareness Day on 7 September 2016.

Please contact STRIVE with questions or for more information.

back to top    

Cure SMA Annual Conference, 16-19 June. California, USA

The CURE-SMA annual conference is the largest SMA conference in the world. Through the conference, researchers, healthcare professionals, and families are all brought together to network, learn, and collaborate. The family conference includes a variety of workshops, keynote sessions with leading researchers and a family-friendly research poster session. Plus fun events like the dance party, meet-and-greet, pajama party and movie night, and teen and adult social activities.

Building for the Future Neuromuscular conference. 16-18 June. Sydney, Australia

The theme for Building for the Future 2016, is exactly what the name suggests, planning now for the future! In particular, presentations will include research updates, clinical care updates, school and beyond, assistive technology, registries, the NDIS and self-managing your supports, exercise considerations in neuromuscular conditions and sexuality. The conference will include presentations from a wide variety of medical and scientific professionals in the neuromuscular field, researchers, clinicians, NDIS representatives, people living with a neuromuscular conditions, NGO’s and many more.

Parent Project Muscular Dystrophy Annual Connect Conference. 26-30 June. Florida, USA.

Parent Project Muscular Dystrophy’s Annual Connect Conference is a unique convergence of industry partners, scientific leaders, medical providers, people living with Duchenne, and their families. This exceptional meeting has grown to be recognized worldwide as the foremost Duchenne muscular dystrophy meeting. But more than that, it is a way for families affected by Duchenne to connect with each other. To build support networks. To realize no one is on their own in the fight to end Duchenne.

Submit an article
Past newsletters
27th May 2016
TREAT-NMD newsletter - 27th May 2016
unsubscribe | view this newsletter online | full newsletter