25th November 2016
New Research May Lead to the Development of Compounds to Correct Mitochondrial Dysfunction in CMT

Charcot-Marie-Tooth (CMT) disease is an inherited neuromuscular disorder that leads to a gradual loss of motor neurons and eventual paralysis. The condition is caused by genetic mutations that disrupts cells' mitochondria. No drugs are available to slow or stop the progression of the disease, which affects nearly 3 million people worldwide.

Scientists at Washington University School of Medicine in St. Louis and Stanford University, report that they have designed small compounds that have the potential to correct the mitochondrial dysfunction that leads to CMT. The team designed the compounds after work in mouse cells revealed a new understanding of the 3-D structure of a key protein that is disabled in the mitochondria of patients with the disease.

The mitochondrial protein the researchers studied is called mitofusin 2. Mitofusin 2 governs whether two mitochondria are able to tether to each other and then fuse, exchanging genetic information, which is thought to be important for maintaining healthy mitochondria and therefore healthy tissues.

Once the researchers understood how mitofusin 2 changes shape, they were able to design small peptides that interact with the protein and drive it toward either an active or inactive state. One of the small molecules, dubbed GoFuse, forces mitofusin 2 into its active, healthy state, which encourages tethering and the resulting mitochondrial fusion. The hope is that GoFuse, or a similar molecule, could encourage the mitochondrial tethering and fusion that is missing in CMT disease. If such tethering could be restored, it could prevent or delay the loss of motor neurons that gradually paralyzes many patients with this genetic disorder.

Full paper available here.

14th TACT Meeting - 3 Applications Reviewed (Miami, USA)
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) recently held its 14th meeting (29-30th October 2016) in Miami, USA. The TACT core group gathered on Friday 28th 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 2 observers from patient advocacy groups who wanted to learn more about the successful model that TACT follows. During the meeting the TACT members discussed 3 proposals submitted by industry 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 December.

The proposals reviewed on this occasion were:

1. VAL-0620 Muscle-targeted enzyme replacement therapy - Deborah Ramsdell, Valerion Therapeutics LLC, USA. Lead reviewer, John McCall

2. Utrophin modulation as a potential treatment for Becker muscular dystrophy - Jon Tinsley, Summit Therapeutics, UK. Lead reviewer, Anna Mayhew

3. Tideglusib, an inhibitor of the kinase GSK3β - Mike Snape, AMO Pharma Ltd, UK. Lead reviewer, Cristina Csimma

Plans are now underway for the next meeting which will be held from 29-30 April 2017 in Edinburgh, UK. Interested applicants should contact the TACT coordinator, Cathy Turner as soon as possible to discuss submission in time for this meeting.

Workshop on Spinal Muscular Atrophy
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On 11 November 2016 the European Medicines Agency (EMA), SMA Europe and the TREAT-NMD network held a one-day workshop to discuss, support and advance the development of therapies for the treatment of spinal muscular atrophy (SMA). The workshop took place at the EMA in London.

The workshop brought together key stakeholders from Europe and USA – patients, doctors, industry representatives, researchers and regulators, to discuss the latest scientific developments in the area of SMA and ways of developing therapies for the treatment of SMA. The programme for the day was divided into three sessions that covered a number of topics including:


  • An overview of the disease
  • The pharmacology of the molecules under investigation
  • Natural history data
  • Clinical outcome measures
  • Potential use of biomarkers in drug development


Patient perspective on clinical trials and drug development was also presented. The importance of patients and carers’ input and involvement in the development of clinically meaningful outcome measures and how these are used in regulatory discussions and decisions was underlined throughout the day.

The workshop allowed the exchange of knowledge and perspectives among different parties involved. It is hoped that the discussion around the meaningfulness of the data for the evaluation of the therapeutic approaches in the treatment of SMA will be useful for further work on the regulatory guidelines on medicinal products for SMA. A briefing paper was produced in preparation for the meeting and to help with the discussions on the day of the meeting. The document is available on the TREAT-NMD website here.

cTAP Announces Two Research Publications Categorizing
and Predicting Disease Progression in
Duchenne Muscular Dystrophy
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The Collaborative Trajectory Analysis Project (cTAP), a public-private partnership to accelerate data science solutions to critical problems in drug development for Duchenne Muscular Dystrophy (DMD), announced the publication of two research studies with important implications for the design of effective clinical trials.

All patients with DMD eventually lose the ability to walk, but the rate at which ambulatory function declines can vary greatly between patients. This variability can cloud interpretation of clinical trials making it difficult to discern whether or not a drug is effective. The published studies announced here explain approximately half of the variability in disease progression in DMD, more than double that explained previously with conventional analyses. “Without this understanding of the natural clinical progression of the various genetic causes for DMD, it would be extremely difficult to design the clinical trials or choose the appropriate endpoints necessary to develop novel drugs to use for DMD,” said Dr. Edward Kaye, President, CEO and Chief Medical Officer of Sarepta Therapeutics. “cTAP is one of the best examples of international academic collaboration that has advanced the clinical understanding of Duchenne Muscular Dystrophy.”

cTAP has connected leading clinical experts in DMD, drug developers and analytical experts with the shared goal of improving clinical trials in DMD by learning from patient data. The two published studies used statistical methods to quantify and predict disease progression in DMD, drawing from a growing database of more than 1,000 boys with DMD that, in total, includes functional assessments at more than 10,000 clinic visits.

Professor Eugenio Mercuri, a world-leading expert in DMD at the Pediatric Neurology at the Università Cattolica del Sacro Cuore, Rome, Italy, pioneered the collaborative access to registry data in DMD that made these studies possible. “As a first step, we wanted to quantify the different rates of disease progression in different patients,” said Mercuri. Published in the September issue of Neuromuscular Disorders, the study by Mercuri and his colleagues identified statistically distinct groups of patients who had similar trajectories of ambulatory function over time; classifying patients into these groups explained more than half of the variability in trajectories of disease progression.

Building on these findings, a second study led by DMD expert Professor Nathalie Goemans, head of the Neuromuscular Reference Center for Children at the University Hospitals in Leuven, Belgium, was published in PLoS One. Goemans and her colleagues developed a prediction model for one-year changes in ambulatory function using a composite of patient characteristics and functional measures. The prediction model explained more than twice as much variability in ambulatory outcomes compared to patient measures that have been used to define eligibility for DMD clinical trials.

Find out more

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The 15th Annual Kings Neuromuscular Disease Symposium

This meeting will take place on Friday 27th January 2017, 09.30 – 17.00.
Venue: On this occasion the event will return to the King's College Hospital campus at Denmark Hill, in the stunning contemporary surroundings of the new Fetal Medicine Research Institute. This has a purpose-built lecture theatre and is conveniently located just next to Denmark Hill station at 16-20 Windsor Walk, London SE5 8BB.

This annual educational meeting, organised by Dr Robert Hadden, is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle. This year's symposium aims to provide more practical general clinical review talks. It will be of interest to general adult neurologists, clinical neurophysiologists, paediatric neurologists, clinical neuroscientists, allied health professionals and trainees. It aims to provide a clinical update as well as an introduction to the science underlying neuromuscular diseases.

Further information, including the programme and link to registration, can be found here.

Enquiries about the event should be submitted to Sam Smith

UK Neuromuscular Translational Research Conference 2017

The conference will once again be hosted jointly by the MRC Centre for Neuromuscular Diseases and Muscular Dystrophy UK, and will take place on Wednesday 22nd and Thursday 23rd March 2017 at UCL ICH, Guilford Street, London.

Registration is now open (spaces limited) and the deadline for abstracts is on Wednesday 14th December 2016 – please read the abstract submission guidelines.

Registration fee (£250) includes Gala Dinner, but please note that accommodation should be booked separately. A draft programme will shortly be made available on the website.

If you have any queries, please get in touch with the organisers of the conference.

Registration Opens for Summer School of Myology 2017
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The Institut de Myologie de Paris will host the 20th Summer School of Myology on the 15th - 23rd June 2017.

This educational event targeting preferably junior MDs and PhDs is now open for registration.

More practical details and application forms are available here. For more information contact the organisers.

Findacure - Free Resource for Rare Disease Patient Organisations
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Sign up for free today to access the new Findacure portal.

The portal is a central hub of information and training for rare disease advocates, patient groups, and charities. It aims to encourage and empower the formation of new patient groups, enable existing patient organisations to grow and provide better support, and build the rare disease community by facilitating communication between users. Our courses contain written guides which breakdown complicated topics into easy to understand segments, with links to external trusted sources for additional information. These guides are accompanied by tailored animated videos and presentations captured at our workshops and webinars to supplement learning. The portal also features a rare disease organisation Wiki, site-wide glossary, and dedicated forums for each course.

The site offers courses which contain written guides, animated videos, presentations, and webinars to explain topics such as setting up a new organisation, good communications, fundraising, partnering with researchers and pharma, and supporting clinical trials. You can also connect to fellow users to ask questions and share your own knowledge in dedicated forum.

Interview with New EC member Andoni Urtizberea
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1. Please tell us about your role / organisation / background

I trained in Paris as a specialist in pediatrics and in physical medicine & rehabilitation (PMR). I then joined the AFM-Téléthon serving as medical director for many years and as General Delegate of the Institut de Myologie in Paris for a couple of others. Around that time, I became the scientific director of the European Neuromuscular Center (ENMC), taking over from my beloved mentor Alan EH Emery.

I then briefly held a professorship in Garches Hospital (APHP) before getting back to my native land (the Basque Country), in order to be a full-time consultant at Hendaye Hospital, where I currently occupy several positions:

- for 30% of my time, I still head the Hendaye branch of the GNMH (Garches-Necker-Mondor-Hendaye) neuromuscular center of excellence driven by APHP (Assistance Publique Hôpitaux de Paris). More precisely, I diagnose and follow up outpatient neuromuscular patients. Additionally, our hospital (Hendaye) provides respite care for the most debilitated patients.

- since 2015, half of my time is devoted to co-coordinating, together with Prof. Jean Pouget (Marseille), the French neuromuscular network called FILNEMUS (Filière Nationale de Santé Neuromuscular).

-  the remainder (20%) is spent as a freelance consultant both for the industry and for various foreign institutions (notably in the Middle-East). In that context, I'm responsible for many educational events such as the well-known Summer School of Myology

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

I remember having been a strong supporter of the early initiative taken by Françoise Salama and many other patient representatives, about having a special European call in the field of NMD, notably for promoting cutting-edge therapies.

I strongly believed and still believe in the added value of uniting forces at the European level. What Kate Bushby and her colleagues have achieved in the field for the past ten years is an enormous contribution, not only for physicians and scientists but also for caregivers and patient organizations.

For many years, and due to several personal constraints, I could not commit myself to the governance of TREAT-NMD Alliance. Meanwhile, I accepted to be part of the Task Force and to serve as a kind of roving ambassador of the Alliance. This year, FILNEMUS, in a move to establish closer links with the TREAT-NMD Alliance, asked me to apply for the vacant position in the executive committee and supported my candidacy strongly. I accepted with enthusiasm. In addition to be the first Frenchman ever elected in the EC, I also wish to contribute more specfically in the field of education/training. I also share with pleasure, the product of our intensive networking that we and others have done in many parts of the world (Middle-East, Latin America, Russia, Indian subcontinent).

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

Diagnostic procedures will simplify over time and get cheaper and cheaper enabling better and equitable access to accurate labelling of NM diseases. My main concern is actually about standardization of care. It is still a formidable challenge in many countries where I have seen neuromuscular patients as a visiting professor. In my view, awareness, education and training are the key-elements in order to bridge the gap between our Western world and others.

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

In my opinion, TREAT-NMD Alliance now exerts an undisputed worldwide leadership which is excellent news. It is the best vehicle to network efficiently and not only at the scientific level. Patients and patient organizations can also voice their concerns. There's no better demonstration that stakeholders act best when united.

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

I have a real passion for minorities hence my fascination (but not my competence, I confess) in population genetics. My dream is to compile some day personal observations of neuromuscular patients/families belonging to such isolated, often inbred communities. Historically, the Cajuns, the Amish, and the Romas are my favorites but there are plenty of others I am working on (the Bahaïs, the Iakuts, the Aggarwals, the Beduins etc.).

Is this dictated by my eternal unanswered quest about the origins of my ancestors, the Basques? Not impossible. Just ask my psychoanalyst!

Myotonic Dystrophy Foundation (MDF) Celebrates 10 Years
of Success
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Myotonic Dystrophy Foundation (MDF) is celebrating a milestone anniversary - ten years! MDF has driven Care and a Cure for myotonic dystrophy via programs that now serve more than 10,000 patients and family members a year in 62 countries. Because of the support of MDF donors and partners, we have made incredible strides in the search for myotonic dystrophy therapies, and in ensuring that families living with this disease have the support and resources they need to live their best lives.

Over 14,000 people now make up the MDF community of families, researchers, donors and friends, with over 1,100 myotonic dystrophy professionals and 13,000 patients and family members from more than 62 countries.

MDF has driven pivotal expansion in research and drug development investment, including over 50 research grants totalling more than $7M in commitments.

Over 10,000 families per year receive comprehensive resources and support services, including thousands of MDF Toolkits printed and shipped. Over 4,500 downloads of the Anaesthesia Guidelines have been made in 2016 alone, and dozens of Warmline support calls and emails each week. The MDF Care investment has totalled more than $675,000 in the last two years alone, and continues to grow.

For further information please click here.

Stand for Duchenne Canada Launches New Website
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Stand for Duchenne Canada is a not-for-profit, non-charitable organization founded by a small group of individuals whose lives have been touched by Duchenne muscular dystrophy (DMD). We were born out of the need identified by our founders, Nicola and Ed Worsfold, for a group dedicated to supporting families like theirs – especially at the beginning of their journey when their son was diagnosed with DMD.

As a national, voluntary organization, Stand for Duchenne Canada’s mission is to unite families living with DMD to strengthen their lives through advocacy and support.
Stand for Duchenne Canada is committed to:

  • Connecting those affected by DMD to establish a united community across Canada
  • Building understanding and awareness about DMD
  • Advocating for access to the best available care and treatment for those living with DMD
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25th November 2016
TREAT-NMD newsletter - 25th November 2016