27th March 2015
The PJ Nicholoff Steroid Protocol

The use of corticosteroids is part of the standards of care for Duchenne patients. Chronic use of steroids is accompanied by side effects, but rapid withdrawal of steroids can lead to serious, life threatening conditions as well. This was exemplified in the unfortunate story of PJ Nicholoff, a Duchenne patient who had been on steroids for 25 years when he ended up in hospital with several fractures. A combination of factors, including the rapid withdrawal of daily steroids, sadly contributed to his death.

To raise awareness and increase correct action upon hospitalization of patients, a panel of experts in neuromuscular steroid care has developed a protocol to address rapid withdrawal from steroids, and subsequent acute adrenal suppression, which can be a life threatening condition. It is hoped that by informing as many families and medical providers as possible, future occurrences of acute adrenal insufficiency can be prevented.

For more information about the protocol, it's development and how to download it, please go to the Parent Project Muscular Dystrophy website.

International Clinical Outcome Study
for Dysferlinopathy - update
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Over 200 individuals are participating in the International Clinical Outcome Study (COS) for Dysferlinopathy, well exceeding the initial goal of 150 patients. Professor Kate Bushby at Newcastle University is coordinating the study across 15 centres worldwide. The study is funded by the Jain Foundation. The outcome measures identified in this study are needed for the development and success of future clinical trials for dysferlinopathy.

In addition, the information gained in this study will provide a better understanding of the disease, ensure optimal care and treatment, and will lead to new and better therapies. Medical, physiotherapy and MRI/MRS assessments are being performed, according to each participant’s level of ability, on 6 occasions over 3 years. As an optional element of the study, samples are also being collected for biobanking at the Eurobiobank. All patients have completed baseline visits, with some patients already embarking on year 2 visits.

Further information about the study is available at: www.dysferlinoutcomestudy.org or contact admin@dysferlinoutcomestudy.org

International Dysferlinopathy Registry
recruitment exceeds three hundred!
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The International Dysferlinopathy Registry (IDR) was launched in 2013. The IDR is available online in seven languages at www.dysferlinregistry.org and is open to all patients worldwide affected with a dysferlinopathy, including the most frequent clinical presentations – namely Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy – as well as all other clinical presentations related to mutations in the dysferlin gene.

Just two years after the first participant registered, the International Dysferlinopathy Registry reached the bar of 300 registrations. It now contains medical information for the 200 participants of the International Clinical Outcome Study for Dysferlinopathy and 100 additional patients worldwide.

Since dysferlinopathy is so rare every single person counts. Any support to encourage additional recruitment to the IDR would be greatly appreciated. There are several documents available on the IDR website that can be used to aid in recruitment.

OPTIMISTIC trial recruits 200th patient
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This ongoing trial in myotonic dystrophy type 1 has now recruited over 200 patients from the four sites in Munich (Germany), Nijmegen (Netherlands), Newcastle (UK) and Paris (France).

The study funded through the European Commission’s 7th framework programme looks beyond the traditional pharmacological solutions to address the current lack of therapies that can reduce, slow down or maintain the symptoms of the condition. OPTIMISTIC is measuring the impact of a unique intervention combining Cognitive Behavioural Therapy and exercise therapy on levels of fatigue, inactivity and quality of life.

This is the largest trial with intervention to be conducted for myotonic dystrophy in Europe and is collecting important information on outcome measures and biomarkers helping to improve the “trail-readiness” of the population. This includes detailed skeletal and cardiac MRI assessment along with genetic analysis of variant CTG repeats. In addition any remaining samples collected as part of the study are being stored in the Newcastle Biobank for Research of Neuromuscular Diseases- where they will be available for future research.

A new project newsletter is now available on the OPTIMISTIC website.

EMA to host workshop on exon skipping
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The European Medicine Agency (EMA) will host a workshop on developing exon skipping therapies for Duchenne muscular dystrophy, organized by the COST Action BM1207 and SCOPE-DMD projects. The meeting will take place on 29 April 2015 and is a follow up to the "Antisense oligonucleotide therapy development for Duchenne muscular dystrophy" meeting which was organized by TREAT-NMD and hosted by EMA in 2009.

The workshop will be an open forum discussion on the regulatory and translational challenges of developing exon skipping therapies for Duchenne and will involve patient representatives, regulators, academics, clinicians and industry representatives.

The meeting is organized by Annemieke Aartsma-Rus and Volker Straub.

European Reference Network for Neuromuscular Diseases
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European Reference Networks (ERNs) will support the delivery of specialised healthcare in areas where expertise and patients are scarce and a collaborative approach is necessary to define and implement best practices, and by extension improve patient outcomes. The 200th ENMC workshop entitled “European Reference Networks: Recommendations and Criteria in the Neuromuscular field” took place on 18-20 October 2013 in Naarden. The group explored the possibility of creating a neuromuscular ERN, and the maturity of the neuromuscular field in terms of networking was established. As a follow-up to this work the next steps are now underway, with the organisers contacting experts and patient representatives to start shaping this ERN.

The call for the first wave of ERNs is likely to be launched in December 2015, with a deadline to apply by March 2016. There will be a major conference in Lisbon in October 2015 which will clarify details of the application process and offer workshops to support the process. Meanwhile, the European Commission has established the “ERN Board of Member States”. This Board is constituted by National Representatives of the different Member States and it will play a key role in the approval of applications to set-up an ERN and become part of an ERN. Interested healthcare providers should contact their National Representative to express their desire to participate in a neuromuscular ERN and to get information on how the respective country is planning to approve the Reference Centres (details of representatives will soon be available here).

FDA workshop on dystrophin quantification methods
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On 20 March, the Food and Drug Administration (FDA, Washington DC, USA) organized a workshop on dystrophin quantification methods. There are currently many therapeutic approaches in development for Duchenne muscular dystrophy that aim at restoring the missing protein dystrophin. When testing these compounds in clinical trials, measuring dystrophin expression in muscle biopsies of participating patients is performed regularly. FDA representatives pointed out the importance of having a sensitive and reproducible method.

The workshop was an open exchange of information. Experts in the field presented their methods on dystrophin quantification. Other aspects involved in dystrophin measurements (antibodies, biopsy sampling and handling) were covered as well. There was ample opportunity for questions from all present stakeholders (representatives from FDA, academia, industry and patient organizations). A TREAT-NMD initiated endeavour to compare dystrophin quantification methods (led by Francesco Muntoni) was presented at the meeting. It was felt important to enlarge this initiative to assess which techniques and methods show the least amount of variations in different labs.

A meeting report generated by the FDA will be published online in the future.

Save the date for the TREAT-NMD Bi-Annual
Translational Sciences Conference
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Planning is currently underway for the TREAT-NMD Alliance Bi-Annual Translational Sciences Conference which will take place in Washington DC on 4-8 December 2015.

This conference will be a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network, learn and exchange ideas about translational research.

To maximize the benefit of our stakeholders getting together a number of satellite meetings and workshops are also planned.

Details of the programme, speakers, venue location and how to register will be announced in upcoming newsletters, on the TREAT-NMD website and also via twitter @TREAT_NMD.

We look forward to seeing you in December!

10th International Myotonic Dystrophy Consortium Meeting
Paris, France
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The 10th International Myotonic Dystrophy Consortium Meeting known as IDMC10 will be held in Paris, France on 8-12 June.

Since the initial meeting in 1997 the consortium has always aimed to accelerate clinical and fundamental research, towards the development of new therapeutic strategies. It also aims to bring scientists, clinicians, patient organizations and patients together under one roof.

This year's meeting will feature five main topics:

- Mutation, genetics and epigenetics
- Clinical and social issues
- Disease mechanisms
- Therapeutic development
- Biomarkers / outcome measures / registries / therapeutic assays

Please note the closing date for poster abstracts is 30 March. Further details can be found on the dedicated website.

11th TACT review meeting, Dublin, March 2015
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We are pleased to announce that the following applications will be reviewed at the 11th TACT review meeting in Dublin, Ireland (28-29 March 2015):

1 - Stefan Schaefer, Peacock Pharma, Goch, Germany:  NHE-1 inhibitor (PEA-001) for DMD

2 - Florence Porte Thomé, EspeRare Foundation, Genève, Switzerland: Rimeporide (EMD 87580), a potential disease modifying drug for DMD

3 - Ramon Marti, Vall d'Hebron Research Institute (VHIR), Spain: Gene therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) using a new orphan drug consisting of an adenoassociated vector carrying the TYMP gene. Phase I/II clinical trial.

Following the face-to-face review meeting, TACT reviewers will generate detailed reports to the applicants within 6 weeks.  Non‐confidential report summaries, developed in collaboration with the applicant, will be available via the TREAT‐NMD website within 8 weeks following the meeting.

The 12th TACT review meeting will be held Washington D.C between 4-6 December 2015.  Those interested in submitting an application should send an expression of interest to the TACT secretariat Louise Johnston

3rd NeurOmics Annual meeting takes place in Palma, Majorca
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Early in March, partners from across NeurOmics met in Palma de Mallorca, Spain, to discuss the progress made so far in the project’s research into rare neuromuscular and neurodegenerative diseases. Excellent advances have been made towards the sequencing of DNA from over 1000 undiagnosed patients in order to search for new disease-causing genes with 33 reported so far and many more in the pipeline.

In addition, the recording and use of high quality and standardised clinical information (deep phenotyping) is also proving to be invaluable for partners comparing data with each other and especially in the search for disease modifying genes. Data-sharing in NeurOmics is working well and has so far enabled significant and collaborative steps forward.

Alongside the presentation of results and progress so far, the next steps for the project were discussed and agreements made that will allow the excellent start which has already been made to be built upon over the coming 2.5 years.

In addition, detailed presentation of research within and directly connected to NeurOmics was enjoyed at a poster session and a Young Investigators’ research session.

The project meeting started and finished with input from RD-Connect. Before the NeurOmics agenda officially began, partners were able to benefit from detailed and tailored training modules provided by RD-Connect partners: Biobanking, The European Genome-phenome Archive and the first version of the RD-Connect.

At the end of the two day meeting, experts from RD-Connect summarized the development of the platform and answered NeurOmics partners’ questions.

The whole meeting was a great success and gave opportunity for discussion, debate and future planning about NeurOmics research alongside training and invaluable networking opportunities.

Professor Nigel Laing, University of Western Australia was present at the NeurOmics meeting and said,

“The 13 workpackages of the NeurOmics project encompass most of the work we are doing, especially in disease gene discovery, development of next generation sequencing diagnostics and translation, including, in our case, an emphasis on prevention of genetic disease. So, the science is good. It is also especially beneficial for us to meet up with the NeurOmics crew, who are all working towards the same goals under the skillful and subtle leadership of Olaf Riess.”

AOMC Meeting report
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Established in Tokyo in 2001, the AOMC sought to promote scientific and clinical research, to provide a forum to advance and distribute knowledge for patients’ benefit, and to provide educational opportunities for young investigators.

The 14th meeting was held in Bangkok, Thailand on 1-4 March 2015 with a gathering of 229 participants including 3 distinguished guest speakers.

There were 5 plenary sessions consisting of:

1 - Congenital myasthenic syndrome (CMS)
2 - Childhood-onset myopathy
3 - Neuromuscular disorders
4 - Auroimmune myopathy
5 - Updated treatment.

Among them, the most timely and interesting topic was CMS which was considered to be quite rare in Asian countries. Professor Hanns Lochmüller gave an overview and update on CMS followed by a panel discussion on the spectrum of the diseases in various Asian countries. Except for a family of slow-channel CMS reported from Thailand and six patients reported from one hospital in Japan, only one to two patients were reported from most of the countries. It is still unclear whether the prevalence of CMS is actually low in Asia or it is not appropriately diagnosed. More careful clinical examination, electrophysiological study and genetic analysis are necessary to make a diagnosis which is important because these diseases sometimes improve with treatment.

Further collaborative studies are needed to diagnose CMS. In addition, the superb handling by the trios, Drs. Rawiphan Witoonpanich, Charungthai Dejthevaporn and Tumtip Sangruchi made the meeting a big success.

PhD Student opportunity in Cologne, Germany
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The Institute of Human Genetics at the Uniklinik Köln is seeking applications for a full-time PhD student to be employed under a fixed term contract for 3 years.

The position is based in the Institute of Human Genetics Cologne/Germany (Director Prof. Brunhilde Wirth). The successful applicant would be working under principal investigator Dr. Sebahattin Cirak has been awarded an Emmy Noether Excellence Group funded by the Deutsche Forschungsgemeinschaft (DFG).

With laboratories located at the Center for Molecular Medicine, the ZMMK is an interdisciplinary research Institute which includes all relevant disciplines and latest state of art core facilities.

The PhD student will be member of an international graduate school in the Interdisciplinary Program Molecular Medicine University of Cologne. The group is highly funded by additional other foundation grants and industrial collaboration.

Full details of the position and how to apply can be found here.

Job opportunities available as part of
John Walton Muscular Dystrophy Research Centre, Newcastle UK
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We are delighted to announce that applications are currently being received for the three positions to work in Newcastle, UK within the John Walton Muscular Dystrophy Research Centre.

The first opportunity is for a Clinical Research Associate to establish and conduct a GCP compliant natural history study for myotonic dystrophy type 1. The second is for a DMD Programme Coordinator who will work closely with the DMD community's funders and stakeholders. The successful applicant will also be responsible for the coordination and future development of TACT. The final opportunity is a Registry Project Manager and Curator who will work with patient organization and key stakeholders taking on responsibility for managing and coordinating the established SMA and FKRP patient registries.

Details of these vacancies along with a number of others can be found in the opportunities section of our website.

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27th March 2015
TREAT-NMD newsletter - 27th March 2015