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24th February 2017
Rare Disease Day 2017

Held on the last day of February, Rare Disease Day is an annual, awareness-raising event coordinated by EURORDIS. On and around this day all over the world individuals, patients, patient organisations, health professionals, researchers, drug developers and public health authorities hold awareness-raising activities about rare diseases and their impact on patients' lives.

As members of the neuromuscular community, you can participate in Rare Disease Day 2017 in 7 different ways.

For more information about the day please visit the Rare Disease Day website www.rarediseaseday.org.

TREAT-NMD Conference Nov 2017 - Registration Now Open
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The 5th TREAT-NMD International Conference will provide another exciting and comprehensive update on orphan drug development, innovative trial designs and outcome measures in neuromuscular disease. The conference will provide a wonderful opportunity for academics, clinicians, patient representatives and registry curators interested in neuromuscular disorders to share knowledge and network with partners on key issues and challenges in the neuromuscular field.

Registration is now open for the 2017 Conference. To Secure your place and take advantage of the early bird rates please click here.

The Conference programme which builds on the success of the previous conference, will include a variety of topics which will appeal to clinicians, researchers, patients, registry curators and other stakeholders from all over the world.

We also have a number of exciting sponsorship opportunities available for this event. For more details please take a look at our sponsorship brochure or contact us at info@treat-nmd.eu or +44 (0) 191 241 8839

We look forward to seeing you in Freiburg in November!

Novel Gene Identified for Centronuclear Myopathy
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With the support of funding from the Myotubular Trust, the Muscular Dystrophy Association, Fondation maladies rares and Association Française contre les Myopathies, Jocelyn Laporte's team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC) have identified and characterised a novel gene implicated in centronuclear myopathy; CACNA1S.

This important breakthrough could uncover new potential research avenues, as well as giving hope to families who currently do not have a genetic diagnosis.

By high-throughput sequencing of the DNA of 11 patients who did not have a genetic diagnosis for their myopathy, the researchers revealed that all of them had mutations in the same gene. These mutations are widespread in the gene and are either from recessive or dominant transmission. The gene CACNA1S was already well studied because of its implication in other diseases, but this is the first time it has been associated with a congenital myopathy.

This work was published in December 2016 in the Journal Acta Neuropathologica, and further details are also available on the IGBMC website.

Predictors of Health-Related Quality of Life in Boys with DMD
from Six European Countries
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Duchenne Muscular Dystrophy (DMD) affects around 1:3600/6000 males. Despite interest in patient reported outcomes measures over the last few decades, little remains known about factors affecting Health-Related Quality of Life (HRQoL) in boys with DMD.

The European CARE-NMD project investigated medical, physical and psychosocial conditions amongst people from Bulgaria, Denmark, Germany, Hungary, the Czech Republic and the UK, who were registered in the TREAT-NMD national DMD patient registries and agreed to participate in the survey.

The 42-item survey questionnaire of the CARE-NMD project gathered sociodemographic data, information on daily life, functional abilities, disease progression, medical and social care. In addition to the CARE-NMD survey, HRQoL questionnaires were administered. The HRQoL was measured using the KIDSCREEN-10 index, the Pediatric Quality of Life Inventory (PedsQL) and the Neuromuscular Module of the PedsQL.

The results showed that overall the HRQoL according to the KIDSCREEN-10 index was associated with household income, frequency of attending a clinic with specialized staff, the number of days spent outside the home and the attitude of the local community. Overall the HRQoL according to the generic PedsQL and disease -specific HRQoL were both positively associated with age and influenced by the country of residence, the disease stage, number of days spent outside home and the attitude of the local community.

Whilst these results may be relevant for clinical practice and planning interventions, further research is recommended.

To read the full article click here.

Catabasis - MoveDMD Trial Results
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Catabasis Pharmaceuticals results from the MoveDMD trial, with edasalonexent has unfortunately shown that the treatment failed to offer significant benefits in Duchenne muscular dystrophy (DMD) participants after 12 weeks.

Edasalonexent therapeutic effects was evaluated using Magnetic Resonance Imaging (MRI) to monitor muscle inflammation in DMD trial participants. Participants receiving edasalonexent did not show significantly less inflammation compared to those participants receiving the placebo. However, it was observed that participants receiving Edasalonexent did show slightly improved muscle function across the timed function tests and the North Star Ambulatory Assessment, although this was not statistically significant.

Edasalonexent is still being evaluated in part C of the MoveDMD trial, to see whether treatment could potentially give significant benefits in the longer-term.

To find out more information about edasalonexent and continued updates, please visit this link.

EMA Patient Registries Workshop-report available
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In September 2015 the EMA launched the initiative for patient registries which aims to facilitate interactions between registry co-ordinators and potential users of registry data both at an early stage of the development, during the marketing authorisation evaluation procedure and post-authorisation.

In October last year EMA hosted a workshop which brought together multiple stakeholders including registry owners, industry, representatives of health technology assessment bodies and regulators to discuss the challenges and barriers to collaboration and identify specific solutions.

Key Recommendations from the workshop included:

  • Regulators should provide registry holders with guidance to help them make informed choices as regards core data elements (optimal elements from a regulatory perspective) and quality parameters that would be considered an acceptable standard for supporting regulatory decision-making
  • Duplication of effort to collect data within disease areas should be avoided and different stakeholder needs should be assessed at an early stage and addressed in the registry design
  • There is a need to registry holders and regulators to communicate directly so that there is clear information about what information is sought and what are the available data
  • Registry holders need to engage with public agencies and define/clarify the role of industry in the long-term as opposed to short-term funding support.

The full report can be found here.

TREAT-NMD has a wealth of resources for curators of neuromuscular disease registries including our registries tool kit. Please contact Rebecca Leary for more information about the TREAT-NMD global registries.

Testing a Scale Designed to Measure Ataxia as a Myotonic
Dystrophy Type 1 Severity Assessment Tool
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Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se, however, DM1 and ataxia  patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, abnormal motor control and impaired language; although caused by different underlying pathologies.

As part of the ongoing natural history PHENO-DM1 study the ataxia rating scale (SARA) has been investigated in DM1 patients as a possible measure of disease severity. Data from the first 54 recruited patients were pulled for analysis with the following findings: There was a high interrater and test-retest reliability with coefficients (ICC) of 0.98 and 1.00 respectively. The component analysis revealed two principle components measured by the scale. As some items gave constant flooring scores due to its pure ataxia-related validity, others clearly showed DM1 disease-impairment influence over the score. SARA correlated with: 1) All measures of muscle function tested including quantitative muscle testing of ankle dorsiflexion, the six minute walk test, ten metre walk test, and the nine hole peg test and 2) Measures of disease-specific severity/burden such as the MIRS and the MDHI and DM1-Activ patient reported outcomes. Finally, a score of eight or above predicted the use of a walking aid with a sensitivity of 100% and a specificity of 85.7%.

As a tool, SARA can be used for gathering information about disease severity/burden and helping to identify patients in need of a walking aid, and can potentially be applied in both research and healthcare settings. We suggest that further research is warranted to ascertain whether SARA or components of SARA are useful outcome measures for clinical trials in DM1. As part of PHENO-DM1 trial, more than 200 patients have been assessed for baseline and have just recently started to attend their 12 month follow-up visits. The team involved expects that this rich data collection could lead the further refinement for a DM1 disease specific severity assessment tool.

Details of this article can be reviewed here.

For details about the PHENO-DM1 study, please visit this link.

ENMC workshop application deadline, 1 March 2017
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ENMC workshop applications can be submitted the whole year through. The deadline for sending in applications for workshops 1 March, 2017.

The forms to be completed for a workshop application can be downloaded via here.

Incomplete applications and applications submitted after the deadline, will not be processed. If you want the Managing Director and the Research Director to preview your application on completeness and accurateness, please submit your application at least 2 weeks before the submission deadline.

Meetings and Events
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2017 Muscular Dystrophy Association Scientific Conference

19 - 22 March 2017

Virginia, USA

The conference which attracts nearly 450 professionals in the academic, government, industrial and clinical arenas, will focus on better understanding disease causes, identifying new therapeutic targets and innovative technologies. There will also be opportunities to discuss new advances in preclinical and clinical research — all aimed at accelerating drug development and targeted treatments for neuromuscular diseases.

Conference presentations and discussions will focus on the following areas:

  • Genetics, epigenetics and gene discovery
  • Approaches to precision medicine
  • Understanding nuclear membranes and protein misfolding/turnover
  • Gaining insights into channelopathies, dystrophin glycocomplex diseases, mitochondrial myopathies, repeat expansion diseases
  • Motor and peripheral neuron diseases, and
  • Clinical trials

Registration Deadline: Feb. 24, 2017. To register or to find out more information, please click here.


10th Annual Neuromuscular Translational Research Conference

22 - 23 March 2017

London, UK

The Conference will be held at ICH, Guilford Street, London and will include a full and diverse programme covering:

  • Neuropathies
  • Genomic Therapies
  • Mitochondrial Disease
  • NIHR rare diseases TRC

For full details of the programme click here or to register follow this link.

Please contact Christine Oldfield, MRC Centre Senior Administrator, with any queries.


Cure CMD: LAMA2 Scientific Meeting

28 March 2017

Washington, D.C., USA

As part of its five-conference series, made possible through the support of an award from the Patient-Centered Outcomes Research Institute (PCORI), Cure CMD hosts a one-day scientific conference focused specifically on LAMA2-congenital muscular dystrophy (CMD). The event will be taking place on the 28th of March 2017 at Hilton Crystal City 2399, Jefferson Davis Highway, Arlington, VA 22202, United States.

If you are interested in the event and would like further information then please contact Terry Selucky at info@curecmd.org or alternatively call on 3235529673.

Please visit the CURE CMD website for further details.

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Past newsletters
24th February 2017
TREAT-NMD newsletter - 24th February 2017
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