27th July 2012
SMA Europe 2012 workshop report

Mapping out Opportunities and Challenges for SMA clinical trials - 13 & 14 July 2012, Rome, Italy

This focused expert workshop, organised by SMA Europe, was a brainstorming meeting that aimed to engage all participants, (scientists, clinicians, physical therapists, industry, patients and patient organisations) to address and propose practical initiatives to be implemented to overcome key bottlenecks in clinical trials for SMA. Together 31 participants from Europe and the US presented and discussed past, ongoing and future clinical trials and key challenges facing the implementation of clinical trials for SMA in Europe and in the US, with particular attention to the needs and specifics related to the SMA population subtypes and the population age. Each session was followed by intensive discussion and conclusions.

Most importantly, the participants agreed to work out a protocol for outcome measures for each SMA type. There was also agreement on possible inclusion criteria and outcome measures to be used in possible clinical trials in each SMA type.

Based on experience in preclinical trials in animal models which show a more substantial effect when treatment is started early, there was extensive discussion over the question of starting human trials in very young infants and even in the “presymptomatic” stage. However, the many challenges to this approach were also highlighted, including the lack of data on whether the experience in animal models is in fact transferrable to the human situation, the many ethical questions surrounding trials in infants, the difficulty predicting the future severity of the condition from genetic data alone, and the difficulty recruiting “presymptomatic” patients in the absence of neonatal screening. Although in both Europe and the US, patient registries are being utilised for recruitment of older patients for research studies (such as the Trophos trial in Europe), individuals with type 1 SMA are underrepresented in all current registries (making up an average of 25% of the registered SMA population despite an expected incidence of around 60% of cases). In the US a neonatal screening pilot program is being initiated in two states with the possibility to include infants identified in this manner in natural history studies and clinical trials. It was concluded that a similar pilot neonatal screening initiative should be explored for Europe and that patient organisations may play an important role in moving this forward, as it will face significant hurdles to implement and regulations differ from country to country.

A further area where it was felt that the SMA Europe could play an important role is in discussions with regulatory authorities, building on the positive experience of previous meetings where consensus opinion meetings involving patient groups, researchers, industry and clinical experts have been welcomed by the EMA and the FDA. These include collaborative efforts led by the International Coordinating Committee (ICC) for SMA and meetings organised under the auspices of TREAT-NMD on SMA outcome measures (2007) and antisense approaches in DMD (2009). With the recent developments in the field, it was concluded that it is timely to approach the regulators again, and not only the patient groups and academics but also the industry participants present during this workshop saw the benefits of a united approach to discuss key questions.

The participants recognized the need to meet on a regular basis in order to investigate the progress made in the field and how this progress can be efficiently turned into clinical trials.

Following the main workshop, a satellite meeting organised by TREAT NMD and funded by Telethon, involving the participants of the main workshop with experience on outcome measures, provided an excellent opportunity to discuss the results of the recent Rasch analysis and further plans for harmonization of outcome measures across the US and Europe.

A complete meeting report will be available via the SMA Europe website in due course.

Report by Brunhilde Wirth and Eugenio Mercuri

A. Ambrosini (Fondazione Telethon, Italy)
JL. Abitbol (HRA Pharma, previously Trophos, France)
M. Azzouz (University of Sheffield, UK)
M. Barkats (Institute of Myology, France)
C. Béroud (Inserm, France)
E. Bertini (Bambino Gesu Childrens research Hospital, Italy)
K. Bishop (Isis Pharmaceuticals, USA)
A. Burghes (Ohio State University, USA)
K. Chen (SMA Foundation, USA)
B. Estournet (Hôpital Raymond Poincaré, France)
R. Finkel (The Children’s Hospital of Philadelphia, USA)
B. Kaspar (Ohio State University, USA)
N. Kayadjanian (Consultant, France)
J. Kissel (Ohio State University, USA)
S. Kolb (Ohio State University, USA)
K. Kroschell (Northwestern University USA)
A. Mayhew (Newcastle University, UK)
E. Mercuri (Catholic University, Italy)
P. Moore (SMA Europe, Italy)
F. Muntoni (Dubowitz Neuromuscular Centre, UK)
MC. Ouillade (AFM, France)
FM. Pradat (Pitié-Salpétrière Hospital, France)
P. Rippert (Hospices Civils de Lyon France)
F. Rouault (SMA-EUROPE, France)
I. Schwersenz (SMA-EUROPE, Germany)
K. Talbot (Oxford University, UK)
R. Thompson (Jennifer Trust, UK)
FD. Tiziano (Catholic University, Italy)
E. Tizzano (Hospital Sant Pau, Spain)
L. Viollet (University of Utah, USA)
T. Voit (Institute of Myology, France)
M. Will (Freiburg University, Germany))
B. Wirth (University of Cologne, Germany)

The workshop was kindly sponsored by the Foundation “Kindness for Kids” (Munich)

TREAT-NMD leadership meeting on future directions
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The Executive Committee of the TREAT-NMD Alliance will meet during the World Muscle Society Congress in Perth, and invites interested colleagues to join the discussion.

The newly elected Executive Committee, chaired by Hanns Lochmuller and Annemieke Aartsma-Rus, will take this opportunity to discuss the priorities and future direction of the network face to face. New challenges and opportunities in translational research for neuromuscular disorders will be addressed, including joint grants, industry collaborations, a world-wide reach and initiatives in new disease areas.

The meeting is scheduled for Thursday 11 October from 5:30pm to 7:30pm in the Perth Convention Exhibition Centre. Further details will be included in our next newsletter, which will be sent out on Friday 28 September. Places are limited. Therefore, please contact us at info@treat-nmd.eu if you will be in Perth at this time and would like to attend.

Biomarkers for NMDs to be discussed with industry
representatives at the next BIO-NMD meeting
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BIO-NMD is an EU funded research project focusing on:

- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Ullrich congenital muscular dystrophy
- Bethlem myopathy

The project is using OMIC sciences to search for non-invasive biomarkers in people with these conditions which may help with diagnosis, disease monitoring and therapy development.  As BIO-NMD approaches the end of its third year, the project’s partners would like to invite representatives from industry to a special session as part of their next meeting. The objective is to facilitate discussions about the research and possible ways to collaborate in order to maximise the impact on patient care in the neuromuscular field.

As a result an Industry Session in Rome on 14 November 2012 has been organised.

If you are interested in attending, please complete the online registration form. Responses will only be shared with the BIO-NMD project partners. A flyer with more detail is available to download here and project coordinator, Professor Alessandra Ferlini or the Communications Officer, Cathy Turner are happy to answer any questions.

BIO-NMD is funded under the EU FP7 scheme and is coordinated by Professor Alessandra Ferlini at the University of Ferrara. Further information about the project, relevant publications and details about the participants can be found at www.bio-nmd.eu.

Iranian congress of neuromuscular disorders and
electrodiagnosis: meeting report
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Neuromuscular disorders represent a growing area of interest in Iran, a vast country with a population of 77m characterized by its great ethnic variety and high consanguinity rate.

The second Iranian congress of neuromuscular disorders and electrodiagnosis was held between 4-8 July 2012 in Tehran and was supported by the Iranian Neurological Association and the Institut de Myologie in Paris, France.  Approximately 200 professionals from across Iran and beyond - including adult neurologists, pediatric neurologists, human geneticists, rehabilitation physicians, radiologists and general practitioners - contributed to this event. International participants included:

J. Andoni Urtizberea - France
Shahram Attarian - France
France Leturcq - France
Pierre Carlier - France
Kian Salajegheh - USA
Haluk Topaloglu - Turkey
Ziad Nahas - USA
Elena Zaklyminskaya - Russia
Bruno Reversade – Singapore

Individuals with NMD and the Iranian Muscular Dystrophy Association were also active contributors.

The purpose of the 5-day congress, which was coordinated by Shariar Nafissi, Massoud Houshmand, Farzad Fatehi and J. Andoni Urtizberea, was to update the Iranian medical community about recent developments in the neuromuscular field and also to create more awareness among the general public in Iran. To ensure these goals were achieved, Iranian media gave the congress significant coverage, the positive results of which were felt both by the organizers and the patients themselves.

Medical universities and hospitals across Iran were also informed and the expectations of the patients, advocacy groups and medical doctors with regards to accuracy of diagnosis and the implementation of proper patient management have now been raised.

The meeting comprised three distinct sections:

1 - An electrodiagnostic workshop including muscle sonography, muscle MRI (by Pierre Carlier), single fiber EMG (by Shahriar Nafissi) and EMG guided Botulinum toxin injection (by Hamid Noorollahi).

2 - Clinical aspects of neuromuscular disorders including myopathies, polyneuropathies, motor neuron disorders and neuromuscular junction disorders. Many topics were covered by the 30 lectures that were delivered during the 6 sessions which featured Iranian and guest speakers.

3 - Myology from a clinical and genetic perspective. The importance of efficient networking and dissemination of knowledge was stressed on many occasions. Two very exciting interactive clinical workshops were organized during these last two days. This allowed Iranian specialists to present solved or unsolved case reports, all of them of great interest.

The meeting undoubtedly paved the way for a better cooperation between different local stakeholders, with two immediate objectives: more accurate diagnosis, notably at the molecular level, and better daily care for patients. Additionally, important collaborative links with European myology teams were developed and built upon throughout the congress.

If you are interested in these promising Euro-Iranian interactions in the field of myology, please contact ja.urtizberea@free.fr or s_nafissi@yahoo.com

Parent Project Muscular Dystrophy meeting report
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28 June -1 July 2012, Fort Lauderdale, USA

This year's annual Parent Project Muscular Dystrophy conference was attended by extended families of Duchenne patients, as well as industry representatives, clinicians, scientists and this year a large delegation of physiotherapists and physiotherapy students from Florida.

The program was packed with presentations on new therapeutic approaches, some of which are currently tested in clinical trials, such as exon skipping (tested in over 200 Duchenne patients), utrophin upregulation (tested in healthy volunteers), PDE5 inhibitors (to improve muscle bloodflow, encouraging results obtained in Becker muscular dystrophy patients) and numerous compounds to improve muscle quality and/or inhibit fibrosis.

In addition there was a session on good quality care and there were interactive workshops on everyday aspects of the disease for parents, siblings and grandparents of patients, and on physiotherapy and stretching, and fundraising.

For the first time this year there were user panels on clinicial trial participation, where parents, clinicians, industry employees and patients openly discussed the different aspects and perspectives of participating in a clinical trial.

Highlights of the meeting were the keynote lecture by Rick Guidotti, a fashion photographer, who currently takes pictures of children with genetic diseases or malformations to show their beauty and to change the way society sees them and a speech from Luca Buccella, an adult Duchenne patient, during the gala dinner, which can be viewed here.

EPIRARE - International workshop on rare disease
and orphan drug registries
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EPIRARE's workshop "Rare Diseases and Orphan Drug Registries" will be held in Rome, 8-9 October 2012.

This free to attend workshop is open to scientists, patient organisations, policy makers and enterprises with the deadline for registration being 31 July 2012.

Co-funded by the EU Commission and DG Sanco the main aims of this workshop are:

  • to share different experiences in the registration of rare diseases, including rare cancers and malformations, in Europe and beyond
  • to highlight the strengths and opportunities of linking rare disease registration activities, orphan drug post-marketing surveillance, etc
  • to promote the sustainability and networking of registration activities
  • to share views in building up a common platform for registration activities devoted to research, public health and other purposes

Poster abstracts that inform and support the main aims of the workshop are encouraged with the deadline for submission also being 31 July 2012.

For further details please click more.

Program finalized for upcoming 2012 MDF Conference
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The program for the Myotonic Dystrophy Foundation's annual conference 17-18 August in San Francisco has been finalized. This year's event gives families and the medical community the opportunity to gather together to learn the latest updates on research and get information about diagnosis, treatment and daily living issues.

The conference will consist of presentations and Q&A sessions with leading DM professionals, and there will also be a resource fair focusing on registries and research studies. MDF staff and Board members will be on hand to share news about exciting new and expanded MDF programs and initiatives and how you can become involved.

Registration is still open, to secure your place please visit the conference website.

TREAT-NMD newsletter's summer break
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This is our final newsletter before we take our traditional summer break and we would like to take this opportunity to thank everyone who has been involved with the newsletter throughout the last year.

Our next newsletter will be sent out on Friday 28 September.

If you have any news or information that you would like to be considered for inclusion in forthcoming newsletters, you can submit your article here.

We hope that those of you with vacations coming up have a great break and we look forward to contacting you all again in September.

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27th July 2012
TREAT-NMD newsletter - 27th July 2012