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26th January 2018
A Fond Farewell: Hanns Lochmuller

Dear colleagues,

Professor Hanns Lochmuller has left Newcastle University. His last day of service was 31st December 2017. We thank him for his excellent and highly productive research in neuromuscular and rare disorders over the last 10 years, resulting in international recognition and benefit to patients.

The TREAT-NMD Secretariat would like to wish him all the best in his new venture.

Executive Committee Nominations
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In accordance with our charter, the TREAT-NMD Alliance Executive committee are seeking two additional members for the Executive Committee, an academic and patient representative. A nomination form will be sent out to TREAT-NMD members on Friday 26th January. The deadline for receiving nominations is Wednesday 14th February. Both self-nominations and nominations by others are welcome.

All TREAT-NMD Alliance members (as of Friday 2nd February) will be asked to vote from Friday 23rd February for their preferred candidates. This will be announced in the February newsletter. The successful candidates will join the TREAT–NMD Alliance Executive Committee in March to help with the strategic planning and direction of the Alliance.

As a member of the TREAT–NMD Alliance Executive Committee, we will expect that you will commit to monthly conference calls and an annual face-to-face meeting.

If you are representing patients with neuromuscular conditions and are interested in helping us to move towards better treatments and care, then please consider becoming a member of the Alliance’s Executive Committee. For more information and to apply to become a TREAT-NMD member, please click here.

Publication from GNE myopathy Disease Registry
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GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data of 150 patients collected via the on-line, patient-reported registry component of the GNE Myopathy Disease Monitoring Program (GNEM-DMP). Disease progression was prospectively analysed, over a 2-year period, using the GNE Myopathy functional activity scale (GNEM-FAS) and clinical parameters such as age at onset, ambulatory status and use of assistive devices. Mutation specific analysis demonstrated a potential genotype-phenotype relationship. The GNEM-DMP is a useful data collection tool, prospectively measuring the progression of GNE myopathy, which could play an important role in translational and clinical research and furthering understanding of genotype-phenotype correlations.

To read the article Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. Pogoryelova O et al., 2017, Neuromuscular Disorders Journal in full, please click here.

Updated Standards of Care for SMA - Neuromuscular
Disorders (Publication)
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We are delighted to announce that an update of the standard of care recommendations for spinal muscular atrophy (SMA) published in 2007 ('Consensus statement for standard of care in spinal muscular atrophy') is now available. The 2-part report is published in Neuromuscular Disorders:

  1. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
  2. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

TREAT-NMD are working with physiotherapists, nutritionists, clinicians and the following patient organisations, to begin work on updating the SMA family guide:

Launch of RD-Connect Sample Catalogue
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The RD-Connect Sample Catalogue is a new and unique tool to help researchers find rare biosamples. Biological samples such as blood and DNA, provided by patients and stored in biobanks, are valuable material that can be used for future research. In the case of rare diseases, the scarcity of patients, who are scattered across the world, makes having biosamples available for reuse particularly important.

To solve this problem, the EU-funded project RD-Connect has recently launched the Sample Catalogue, which allows researchers to find biological samples from rare disease patients for research purposes. It is also a tool for rare disease biobanks to ensure the biological samples they hold are accessible for research and are adequately represented. The Sample Catalogue is open and available to all users at its new URL https://samples.rd-connect.eu/ and is free of charge.

Currently, the Sample Catalogue includes 7,352 biological samples associated with 90 rare diseases, and an additional 25,000 samples in the tool staging area are to be published shortly. These biological samples are stored in the biobanks of the EuroBioBank Network.

The Sample Catalogue provides detailed information about individual biosamples, including not only the disease, sample type, sex and availability of genetic and registry data, but also diagnosis type, and availability of samples from the patient’s family members. In the current release of the RD-Connect Sample Catalogue, users can browse sample collections using powerful filtering functions and search via disease names or codes.

The behind-the-scenes development work on the Sample Catalogue will continue into 2018, including the implementation of BBMRI-ERIC Negotiator, a tool allowing researchers to quickly make and refine requests for specific biosamples to the biobanks holding samples of interest.

The Sample Catalogue is one of the three key tools developed by RD-Connect, next to the Genome-Phenome Analysis Platform and the Registry & Biobank Finder. The work is ongoing to make all three tools interconnected. The connection of the Sample Catalogue with the Genome-Phenome Analysis Platform will allow researchers to find biosamples from patients with a specific genetic defect, while the connection with the Registry & Biobank Finder will let them easily find biobanks and access information about their sample collections.

Updated Care Considerations for DMD - The Lancet
Neurology (Publication)
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We are delighted to announce that a significant update to the 2010 publications, ‘Diagnosis and management of Duchenne muscular dystrophy’ parts 1 and 2 have now been published in The Lancet Neurology.

A multidisciplinary committee of experts was established in 2014 with the task of updating the care considerations from 2010 in order to benefit patient care. The new care considerations address the needs of patients with prolonged survival, offer guidance on assessments and interventions, and consider the implications of emerging therapies for Duchenne Muscular Dystrophy (DMD). The committee identified three new topics to be addressed in addition to the eight from 2010. These are primary care and emergency management, endocrine management and transition of care across the lifespan. The care considerations are now published online as 3 papers:

Part 1Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Part 2: Respiratory, cardiac, bone health, and orthopaedic management

Part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan

Updated Family Guides will be available in the coming months.

Falls and Resulting Fractures in Myotonic Dystrophy: Publication
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Myotonic Dystrophy type 1 (DM1) has been described as a disease with an increased risk of falling. However, how much DM1 patients fall was not yet measured and it might be an unpredicted and underestimated factor requiring attention.

In this project, members of the OPTIMISTIC consortium from three different countries (UK, Germany and the Netherlands) collaborated to estimate the prevalence of falls in adults with this disease and to identify the causes patients attributed these falls to. 573 responses were collected in total and results provided a risk ratio estimation of 30 to 72% for falls and 11 to 17% for associated fractures. This translates to an estimation of DM1 adults with 2.3 times more risk of falling than a healthy person over 65 years of age, who are the ones currently recognised as high risk of falling and with access to falls clinics in the UK. Balance and leg weakness were the two most commonly reported causes for falling. Neither sex nor age showed to predict falls in DM1. This has been the first survey done in this dimension and the findings are of interest when considering DM1 standards of care as falls prevention and education should be considered an essential component of it.

To read the article Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey. Jimenez-Moreno AC et al., 2017. Neuromuscular Disorders Journal in full, please click here.

TREAT-NMD Membership Total - Update
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In the December newsletter, the TREAT-NMD Executive Alliance Committee invited you to become a TREAT-NMD member. Our membership total has risen to 436 individual members in January, but we still have our target of 1,000 members by 2019 in our sight.

TREAT-NMD membership is free and our members will benefit from:

  • Discount on TREAT-NMD conference registration fees
  • 20% discount to the Journal of Neuromuscular Diseases individual yearly subscription and 10% discount to Open Access fee for papers being submitted
  • Opportunity to nominate yourself or nominate a TREAT-NMD member to fill a vacancy on the Executive Committee
  • You get a vote (including a vote on the location of the 2019 conference!)

To find out how to become a member and to apply, please click here.

TREAT-NMD 2019 Conference Location - You Decide!
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Our 5th International Conference in Freiburg was a real success and we would like to build on that success for the next conference but we need your help. The involvement of our members is incredibly important to the TREAT-NMD network and we would like as many of you to attend our next conference as possible. With this in mind, we have decided to put the location of our next conference to a vote. If you are a TREAT-NMD member, you will be sent an email with a link to vote for your preferred conference location from the list below.

The options for the next TREAT-NMD conference are:

  • Chicago, USA
  • Dubai, UAE
  • Japan
  • Leiden, Netherlands

Each member has one vote and can only select one option (voting closes on Friday 9th February 2018).

If you would like your say in future TREAT-NMD votes, please consider becoming a TREAT-NMD member. For more information and to register, please click here.

Egyptian Neuromuscular Patient Society Registry Website
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The Egyptian Neuromuscular registry was established in 2013 and is coordinated by Dr. Rasha El Sherif MD who specialises in neurogenetics and neuromuscular disorders. The registry is open for patients with all neuromuscular disorders from Egypt, Africa and Arabic countries.

The website for the Egyptian Neuromuscular Registry is now available. You can access the website by clicking here. Their mission is to build a database of patients living with neuromuscular disorders in Egypt and the region, connect patients with the best available international standards of care and with available and future neuromuscular therapies. The Egyptian Neuromuscular registry database currently holds more than 1,000 patients from different neuromuscular diseases.

Information is available on the website in English and Arabic for patients to help raise awareness about different neuromuscular disorders, by providing information about each disease. Patients can register according to their diagnosis, and a neuromuscular specialist from the registry team will contact them to complete the clinical data.

For more information, you can contact Dr Rasha El Sherif by clicking here.

Save The Date: AFM-Téléthon Scientific Congress in Myology
(March 2019)
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AFM-Téléthon is pleased to announce that their scientific congress in Myology will take place between 25th-28th March 2019. The congress will take place in Bordeaux, France.

Please check the AFM-Téléthon website for further information.

5th TREAT-NMD International Conference - Feedback survey
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The TREAT-NMD 5th International Conference in Freiburg was a real success and we would like to build on that success for the next conference but we need your feedback. We have invited all delegates who attended the conference to complete a short feedback survey.

Your comments and suggestions would be greatly appreciated, as it would assist us in our planning of future conferences. The survey will close on Friday 26th January. The survey will take approximately 3-5 minutes to complete.

If you attended the conference in Freiburg and have not yet completed the survey, please click here to do so.

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2018 MDA Clinical Conference

11-14 March 2018

Arlington, USA

The Muscular Dystrophy Association (MDA) Clinical conference will be held at the Hyatt Regency Crystal City in Arlington, Virginia. The conference aims to bring together over 500 medical and scientific neuromuscular experts from academic, government and industry.
The conference will focus on providing opportunities for physicians and allied health professionals to learn about new approaches and techniques for clinical management, hear about the latest information regarding clinical trials results, engage in dialogue and networking among peers.

For more information and to register, please click here.


16th Annual World Congress on Pediatrics

21-22 March 2018

New York, USA

On behalf of the Pediatric Chair, Conferences Series LLC cordially invite eminent researchers, students and delegates to take part in this upcoming conference to witness invaluable scientific discussions and contribute to the future innovations in the field of pediatrics. The conference will focus on the latest innovations, problems related to diseases, infant pediatrician and disorders in Pediatrics. It is an opportunity for researchers across the globe to meet, perceive new scientific innovations in the pediatrician directory and journal about pediatrics. The conference will include a child health care workshop, symposium, and special key note session. The organisers would like to encourage the active participation of young student researchers as they are hosting a poster award competition and a young research Forum at the conference.

For more information and to register, please click here.

26th January 2018
TREAT-NMD newsletter - 26th January 2018
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