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Preclinical DMD Research Collaboration Continues work to draft SOPs and Updated Guidance on Two Key Mouse Models
The 'Of Mice and Measures' Duchenne research collaboration, responsible is collaboration with TREAT-NMD for this 2017 workshop and report offering preliminary insights on D2/mdx and Bl10/mdx mouse best practices and undertaking an effort to draft and update SOPs related to using these models. Based off of an expanded body of experience in recent years, working groups will draft overall guidance on husbandry, handling, experimental design, and key assessment best practices as well as formal detailed SOPs on a number of priority measures. The objective is to provide community-informed, open-access resources for selecting and performing priority measures in preclinical Duchenne research, thereby improving overall data quality and standardization in the field. Founded in fall 2016, 'Of Mice and Measures' is a collaborative initiative among academic, industry, and nonprofit partners in the DMD research community. United States-based nonprofit Charley's Fund serves as a central funder and coordinating party and works collaboratively with a Scientific Organizing Committee and leading experts in the neuromuscular community and TREAT-NMD network to develop and drive ongoing efforts. Below is a list of priority SOPs we’ll be drafting or adapting/updating. In addition to the individual SOPs, we will also be developing overall general guidelines for husbandry, handling, and experimental design rigor as well as guidance on CK, dystrophin level, and gene expression assessment. These will not be at the level of a formal SOP but rather designed to offer relevant, readily applied guidance on standardization and calibration within a lab, divergent issues between Bl10 and D2, and considerations for outcomes of choice (including commentary on some for which we may not be developing formal SOPs but about which people may have questions). Priority SOPs for development/updating:
• Voluntary running wheel
• Grip strength
• Force (in vitro, in situ, in vivo)
• Cardiac functional assessments: PV loops, shortening fraction
• Histology
o CNF
o Fibrosis
o Calcification
o Regeneration
• Pulmonary function and plethysmography
Individuals interested in contributing to this project and who have data and experience applying these measures to the models in question should reach out to Raffaella Willman of University of Basel and copy Laura Dalle Pazze of Charley's Fund. Please include a brief explanation of your data and experience relevant to your area(s) of interest.
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Committee Members Needed for New Remote Outcome Measures Working Group
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Back in December 2019 we all looked to 2020 as the year of hopes and dreams of new interventions and treatments, with our “20/20 vision”. The pandemic brought all of that to a screeching halt but we are resilient.
As part of our commitment to patient care and research, TREAT-NMD hosted a 2-day workshop on Remote Outcome Measures consisting of clinical and regulatory experts from both academia and industry to review the state of currently available remote outcome measures and identify gaps that may prevent successful implementation. To follow up on the identified needs, we are starting a working group with a goal to identify, design and/or begin initial validation, as needed, on a core set of physical performance outcome measurement items that could be used reliably in with a patient in their home.
We are seeking a small group of volunteers to help guide this work. We welcome experts in all backgrounds including clinicians, registry curators, regulatory experts, patient representatives, statistical and measurement experts and pharmaceutical companies. We anticipate this initial phase of identification and development will be a 9-month commitment. We anticipate a small group of 6-8 members. Following this initial planning phase, we start the validation phase and will welcome a larger group. We anticipate the phase to be a 1-2-year commitment.
We believe this endeavour could making a meaningful impact on the lives of patients, researchers and clinicians as we could expand our reach for both research subjects and patients. If you are interested in joining the development or validation teams, please reach out to Sonia Segovia at or Mina Jain
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Two Sides of the Same Coin
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You can live in two different places, speak two different languages, be part of two different generations and have a common trait. A trait that we can call courage: the courage to look at life with strength, live it to the fullest and transform difficulties into opportunities. This trait belongs to Elizabeth, president of the World Duchenne Organization mother of Justus a 30-year-old young man with Duchenne muscular dystrophy and also belongs to Maddalena, a 16-year-old Italian national Paralympic dance champion, who lives with spinal muscular atrophy. “I realize I have physical limitations, but I am a determined person and I try to find a solution to everything and to do things that seem impossible. When I dance I don't think I'm different and I'm in a wheelchair. As soon as the music starts, my head goes to another world and I imagine moving my legs like all the best dancers ”, says Maddalena in the video interview. Maddalena does not stop in pursuing her dreams and goals just as Elizabeth did in her life from the moment of diagnosis until now. "In these 30 years I have learned how beautiful life is. I have a son who can only use his thumb and right hand to move the joystick and the computer. Nevertheless, he makes the most beautiful things, he has the most beautiful thoughts and we have wonderful people around us. I have learned that things are possible if you look at life in a different way. Having a child with Duchenne muscular dystrophy has enriched my life enormously”, says Elizabeth in the video interview. Maddalena and Elizabeth were interviewed within the DONNENMD project, an educational action on women and neuromuscular diseases promoted by the NeMO Clinical Center in Rome and the Fondazione Policlinico Universitario Agostino Gemelli IRCCS with the support of Biogen, Novartis, Roche, Sarepta and Italfarmaco.
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Applications for the 2021 LGMD European Masterclass Now Open
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Applications for our next LGMD Masterclass scheduled to be held in Barcelona or virtually depending on the situation with COVID-19 on the 29th and 30th April 2021.
The programme will span two days and includes a series of interactive lectures from 18 expert speakers covering a range of topics relating to LGMD, the event will also include a choice of two highly interactive workshops: Physiotherapy and other clinical care conditions and a workshop discussing a series of interesting exemplary clinical cases.
Applications are welcomed from health care providers across Europe who diagnose or manage the care of patients with Limb Girdle Muscular Dystrophy (LGMD). For full details of the draft programme or if you would like to apply for a place on this programme please visit our website for further details or access to the application form. Our Masterclass programmes are very popular, and places are strictly limited therefore we would encourage anyone interested to apply as early as possible to avoid disappointment. For queries or further information contact Paul Willard.
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Extra Places Available for TREAT-NMD DMD Virtual Masterclass 2021!
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We are excited to announce that as this is now a virtual meeting there are extra places available for the TREAT-NMD DMD Expert Masterclass 2021. This event was due to take place in May 2020 in Sao Paulo, Brazil, but was postponed until May 2021 due to COVID 19.
The event will now take place as a virtual masterclass on 5th and 6th May 2021 and will feature a range of sessions including diagnosis, genetics as well as respiratory care and other sessions which cover the standards of care for Duchenne muscular dystrophy.
This masterclass is aimed at professionals working in the diagnosis, care and treatment for people living with DMD. Priority places will be given to candidates applying from South American countries as this is the target audience for this masterclass, but applications from other countries may be considered with this being a virtual event.
The agenda and selection of participants is overseen by the TREAT-NMD Education Committee (TEC). Whilst financial support is generously received from Sarepta and PTC, the masterclass is organised and run entirely independently by TREAT-NMD. You can apply for a place on this masterclass here.
For further information on this event, please see our website, or contact Clare Bradley.
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Now Available! Spanish Translation of a Guide to the 2017 Standards of Care for SMA
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REAT-NMD is delighted to announce the guide to the 2017 standards of care for SMA is now available in Spanish.
This excellent resource has been made possible by the excellent translation work of Rodrigo Torres, Maria Soledad Monges, Hernan Gonorazky, Gonzalo Blanco and Jose Luis Gonzalez Garcia. TREAT-NMD would like to thank the team for their hard work in translating this fantastic resource so it can be used more widely.
The guide to the 2017 Standards of Care is now available in Spanish, German Macedonian and Ukrainian, with more languages coming in the next few months. You can access them on our website here.
If you would like any of the guides printed professionally or require further information please contact Clare Bradley
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Join the TACT (TREAT-NMD Advisory Committee for Therapeutics) mailing list!
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary international group of academic and industry drug development experts, as well as patients and their representatives and regulatory experts. TACT meets twice a year to review and give objective advice on the translational and development pathway of therapeutic programs in rare neuromuscular diseases. Since its establishment in 2009, over 65 applications have been reviewed, covering several conditions including Duchenne and Becker muscular dystrophy, spinal muscular atrophy, limb girdle muscular dystrophies, myotonic dystrophy, congenital myopathies, Pompe disease and other neuromuscular diseases.
If you are interested in receiving more information about TACT including upcoming meetings, calls for applications and calls for new reviewers, you can now join our TACT mailing list. Please follow this link to sign up. The next TACT meetings are scheduled for:
1–2 May 2021 – Bari, Metropolitan City of Bari, Italy
23–24 October 2021 – North America (TBC)
We are currently accepting applications from academia and industry for both meetings with only limited space remaining for May. If you are interested in submitting an application to either meeting, please contact Catherine Turner . Please note that these meetings will be held virtually if restrictions due to COVID-19 are still in place.
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SMA Care Guide for Families Launches Online
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Online, family-friendly guide to the very latest standards of care for SMA is now live at alongside downloadable versions launched in 2019.
TREAT-NMD is pleased to announce that the SMA Care Guide for families is now also available as an online resource designed to work across all devices. The guide is intended to provide people with SMA and their families information about what kind of medical treatment they may receive in an accessible format; suitable for people who do not have a medical background.
Using the information from the 2007 care recommendations and the updated care recommendations published in the Neuromuscular Disorders journal, TREAT-NMD worked with Cure SMA, UKSMA, MDUK and SMA Europe to produce the first guide to the 2017 international standards of care for SMA. These guides, in increasing numbers of languages, have been made available throughout 2019 and 2020 via the TREAT-NMD website to download:
The new online version of the guide will give wider access to the guide and help to ensure that the latest medical care standards are available to all people living with SMA. The content is the same as the printed version and downloadable version of the guide for families but we hope will be accessible to more people in this user-friendly format. You can now access the latest online Guide here.
This launch is for the UK-English version but other languages will be appearing over the coming weeks. If your language is not yet represented and you are interested in working with us to provide translations, please do contact Clare Bradley
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Orphanet Journal of Rare Diseases Publishes
ECRD 2020 Special Supplement
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A special supplement, featuring over 50 selected poster and speaker presentation abstracts from the ECRD 2020 conference, has been published on The Orphanet Journal of Rare Diseases (OJRD) website.
The OJRD, published by BioMed Central, is an open access, online journal that encompasses all aspects of rare diseases and orphan products and publishes high quality reviews on specific rare diseases. This is the sixth time that abstracts from the ECRD have been published on the OJRD.
For anyone who missed the opportunity to attend the conference, they can still register to access recordings of all ECRD 2020 sessions, including speeches from 3 European Commissioners, 2 Health Ministers, and 100+ expert speakers. Over 230 posters from 7 themes displayed at ECRD 2020 are available to view and download on the ECRD website.
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