Countdown to the 2019 TREAT-NMD Conference

TREAT-NMD Advisory Committee for Therapeutics (TACT) Meeting in November 2019

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The next TREAT-NMD Advisory Committee for Therapeutics (TACT) review meeting will be held in Toronto, Canada between 2^nd- 3^rd November 2019 and will review three applications for advice.

We are currently planning for the following TACT meeting, which will take place in Bari, Italy between 25^th-26^th April 2020, and we would like to encourage applications for advice from stakeholders across the neuromuscular community, involved in therapy development whether they be academic-led groups or from industry.  

TACT's goal is to provide advice on the positioning of potential therapies along a realistic pathway to clinical trials and eventual registration by evaluating preclinical data as well as drug development considerations that are crucial for the conduct of studies that generate meaningful data. TACT has reviewed almost 60 applications since 2009. Further details about the committee of experts, process and the benefits of a TACT review can be found on the TREAT-NMD website here. 

If you would like to submit a proposal for this meeting or require further details, please contact Cathy Turner for more information. If you are attending the upcoming WMS Congress and would like to discuss TACT further, please come and visit the TREAT-NMD stand (L23) or contact Cathy Turner or Joanne Lee via the WMS app. 

The Information Point Newsletter - Request for Stories

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The Information Point, an organisation which raises awareness of the conditions centronuclear and myotubular myopathy (CNM/MTM), will be publishing a new edition of its newsletter later in 2019. The Information Point is looking for research stories to include in its next issue. If you have a CNM/MTM research story that you'd like to share or would like a feature in a researcher profile piece you should contact The Information Point. 
If you'd like to read the latest edition of the newsletter you can do so here.

TREAT-NMD Outreach Meeting at WMS 2019

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The TGDOC Chairs would like to invite attendees of the WMS 2019 congress who wish to learn more about TREAT-NMD and TGDOC to a breakfast outreach meeting at 7am on Thurs 3rd October.  We are excited to host this networking opportunity in appreciation for all the efforts and and energy that individuals and organisations contribute to make neuromuscular registries valuable tools for clinical and research innovation.

This is a great opportunity to learn about the activities, structure and governance of our Global Registries Network, as well as our processes, affiliation criteria and future directions. There will also time for Questions and Answers and open discussion.

The meeting will be ideal for individuals involved with new or developing registries, those recently aligned or working towards alignment with TREAT-NMD, and current TGDOC curators who are unable to attend the Annual TGDOC Curators’ Meeting in Leiden.

Please register your attendance using this link. As space is limited we may be required to close registration for this meeting once we reach capacity, so early registration is encouraged.

We look forward to seeing you in Copenhagen!

If you would like to subscribe to the quarterly TGDOC newsletter please complete the online form.

Updates to the DMD Research Overview pages of the TREAT-NMD Website

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The DMD research pages of the TREAT-NMD website have been updated recently. This overview aims to provide patients and families of DMD patients with information on the mechanisms of different therapies in development and the current climate. Major updates have been made primarily in the gene therapy section, based on the presentations given by the companies involved at the Parent Project Muscular Dystrophy meetings. However, other areas have been updated as well based on recent developments and announcements of clinical trial results and presentations at meetings.

The Dutch translation has been updated already. If you are interested in translating the research overview into a specific language or want to update an existing translation, please contact us. 

Registry Curators! Have you registered for the 2019 TGDOC Face to Face Meeting?

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The TGDOC Chairs are delighted to invite curators to register for the 12th Annual TGDOC and Registry Curators’ meeting, to be held in Leiden, The Netherlands on Thursday 12th December 2019. 

This closed meeting is a chance for TGDOC members to get together and share knowledge and updates about the work of the TGDOC community, as
well as a great opportunity for networking.

Registration is free, and one bursary for accommodation and travel to the meeting is available per registry. You should have received an email containing Bursary Guidelines and a Draft Agenda by now, please contact us if this is not the case. Please note, registries which do not have a Confidentiality Disclosure Agreement (CDA) in place and/or have not completed the Registries Review survey are still welcome to attend the meeting but will not receive any reimbursements for their travel or accommodation. You can register for the meeting here.

Once curators have registered for the TGDOC meeting and met the criteria specified they will receive a unique code which can be used to claim free registration to the TREAT-NMD International Conference, 9th-11th December 2019, also in Leiden. Please note travel and accommodation costs can only be reimbursed for the TGDOC meeting. Further details and the meeting agenda will be published in due course. If you have any questions please contact Helen Walker.

SMA Expanded Dataset Workshop Registration

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Attendance at this workshop is highly encouraged for Curators of SMA registries taking part in the Expanded Dataset Implementation project (pilot sites, year 1 and year 2 registries). However any other registries who are collecting all or some of the expanded SMA Dataset, or working towards this, are also welcome to attend.

During the workshop we will be offering information and guidance on implementation of the new SMA expanded dataset, receiving updates on progress from registries, and facilitating harmonisation and collaboration between registries.

Please use this form to register for the SMA Expanded Dataset Workshop on Friday 13th December 2019 at Leiden University. If you are eligible for the travel and accommodation bursary to attend the TGDOC face-to-face meeting on Thurs 12th December, this will be increased to include an extra night’s accommodation.

Please send any queries about this workshop or the Expanded Dataset project to joanne.bullivant@ncl.ac.uk.

New Edition of the GNE Myopathy International Patient Registry Newsletter

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The September edition of the GNE Myopathy International Registry has been published.

This month’s newsletter features details of upcoming events, news and reports from the rare disease community, a patient story and other updates from the neuromuscular field.

The newsletter is aimed at GNE Myopathy patients who have signed up to the registry, as well as anyone else within the International GNEM community. The newsletter is published towards the end of each month, and we are always looking for new content. If you would like to submit an article for the newsletter, or if there is anything in particular that you would like to see in the newsletter, please contact Registry Curator Lucy Imber. For any other queries regarding the registry please contact HIBM@treat-nmd.eu

TREAT-NMD Education Committee (TEC) has arrived!

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We are pleased to announce that the TREAT-NMD Education Committee (TEC) now has a new home on our website.

The TEC, chaired by Professor Annemieke Aartsma-Rus, is a board of experts who are affiliated with TREAT-NMD and have a particular interest in the education events and materials that TREAT-NMD produces or contributes to. The TEC was established in 2018 with a primary aim to oversee the quality, independence and appropriateness of any educational materials and activities created by, linked to or endorsed by TREAT-NMD. One of the TEC’s significant roles is to oversee the planning of the TREAT-NMD Masterclasses.

Most recently, the TEC reviewed and approved applications for the 2019 SMA Masterclass, which will take place in London on 29^th and 30^th October. The group has also approved the programme, date and location for the upcoming DMD Masterclass which will be in Sao Paulo, Brazil on 6^th and 7^th May 2020. Announcements regarding applications for this Masterclass will be released soon.

SAVE THE DATE: 6th and 7th May 2020, TREAT-NMD Expert DMD Masterclass, Sao Paulo, Brazil. 

For more information on the TEC please visit the TREAT-NMD website.

TREAT-NMD Blog Series: "A Light Around the World" by Nicoletta Madia

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"A special light went around the world on September 7 for the World Duchenne Awareness Day and lit up every corner and every person. It is the light of the thousands of people who are part of the Duchenne Community: love is the light of the families of children and young people who live with this disease, knowledge is the light of experts, commitment is the light of volunteers. This light that shines on homes, schools, hospitals, laboratories and streets every day, chose to show itself to the world on September 7: cities were illuminated in red light, faces were illuminated with hope.

Five years have passed since the first edition of the World Duchenne Awareness Day, conceived and promoted by the World Duchenne Organization. Since then, more than 100 organizations from around 45 countries have joined in various ways to make this day special: meetings on research and clinical management for DMD, walks and runs, concerts, exhibitions. Everyone has found her/his own way to engage and inform civil society. The European Parliament recognized the value of this day with its High Patronage, and the Pope sent messages of compassion and hope to the Duchenne Community.

The media have shared stories and experiences, and personalities from different fields (sport, entertainment, culture) have communicated the importance of joining this cause. Every year, this special day creates two paths: one mainly directed to civil society and one specifically to the Duchenne Community, emphasizing different aspects (the importance of early diagnosis, standards of care, the value of dreams for children and young people, etc).

In the 2019 edition, the Bring Your Light For The World Duchenne Day video, translated in 21 languages, has reached millions of people. The children were asked to enter a dark room and follow a path of lights until they reached a box. On opening the box, a red balloon, which has accompanied this day from 2014 onwards, symbolizing making  Duchenne fly  away from this world, came out  and a light illuminated their faces, the wonderful light that everyone can bring to the Duchenne Community to make a difference.

In parallel, the need  to pay special attention to the issue of nutrition in DMD was gratefully welcomed by Duchenne families and, thanks to the collaboration of experts from different countries all over the world, materials have been created that  explain to families and children clearly and simply how proper nutrition can have an important impact on health and quality of life. Has been produced a video on DMD and nutrition with Dr. Henricson, 17 most frequently asked questions about nutrition are answered by Dr Zoe Davidson and thanks to Prof. Annamaria De Luca a report on  the risk of supplement use in DMD was put together and published during WDAD."

If you'd like to write a blog post for the series please contact info@treat-nmd.org

Conect4Children Project Update

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TREAT-NMD are involved in the c4c network as a specialist network.

One task of the c4c consortium is to provide scientific feasibility advice needed to improve child health and paediatric medicine development. Appropriate experts will be selected from groups of experts (methodology, clinical, and parents/patients) to provide Strategic Feasibility advice to individual requests from c4c beneficiaries from pharmaceutical industry and academic consortia about conducting feasible, innovative and scientifically sound paediatric clinical trials.

In the February TREAT-NMD newsletter, we featured an article inviting applications for the neuromuscular clinical expert group. Expert members have now been chosen and the first meeting of the neuromuscular expert group has taken place. We would like to thank everyone who submitted an application.

In April this year the consortium announced the selection of the 4 non-industry Proof of Viability Studies which would be supported by the c4c Network. The research collaboration will be used to build and implement a pan-European paediatric clinical trial network whose goal is to improve the European paediatric clinical trial infrastructure in order to facilitate the development of new, innovative and safer medicines for children in Europe.

• MOI - Repurposing losartan in children with Osteogenesis Imperfecta (OI).
• TREOCAPA - Prophylactic treatment of the ductus arteriosus in preterm infants by acetaminophen.
• cASPerCF - Prospective validation and clinical evaluation of a new posaconazole dosing regimen for children and adolescents with cystic fibrosis (CF) and Aspergillus infection.
• KD-CAAP - Multi-centre, randomised, open-label, blinded endpoint assessed, trial of corticosteroids plus intravenous immunoglobulin (IVIG) and aspirin, versus IVIG and aspirin for prevention of coronary artery aneurysms in Kawasaki disease.

In June, staff in Newcastle, who are involved in the Data Coordinating Centre and Data Quality Standard Workpackage (WP5), hosted a workshop to gather consensus around the creation of the cross-cutting paediatric data dictionary (CCPDD). A number of clinical experts attended this very successful event and it was agreed that Version 1 of the CCPDD (along with a User Manual) will be developed by the end of the summer.

New Issue of Journal of Neuromuscular Diseases Published

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A new issue of the Journal of Neuromuscular Diseases has been published. The journal publishes research reports, reviews, short communications, and letters-to-the-editor and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.

Issue 6:3 includes papers on the topics of 'Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic screens', 'Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats' and 'A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks'. 

You can find more information about the journal on the IOS Press website. You can also get more news about the journal by subscribing to the JND Newsletter. 

Spotlight On...

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30th of September was LGMD Awareness day and to celebrate the 'Spotlight On...' series will be focusing on an LGMD organisation, Coalition to Cure Calpain 3.

What is the geographical reach of your organisation? We are a global non-profit foundation.

How and when was your organisation established?
Coalition to Cure Calpain 3 (C3) was founded in 2010 for the specific purpose of funding research efforts focused on understanding the biology of and finding a cure for limb girdle muscular dystrophy type 2A (LGMD2A), a form of calpainopathy. This organisation was created by patients and their families who were frustrated with the lack of knowledge about the disease and the fact that very little research was being done. We are motivated by our desire to encourage collaboration among scientists, those who have LGMD2A, their families and friends, and the community-at-large to bring an end to this under-researched, underfunded “orphan” disease.

What are your organisation's aims?
C3 is committed to treating and ultimately curing LGMD2A. Our mission is to fund high potential research and clinical trials as we educate the global community about this disease.

How has your organisation worked with TREAT-NMD? If it has not how would you like to work with TREAT-NMD?
C3 is a TREAT-NMD Alliance Member Organization and has attended TREAT-NMD meetings. C3 manages the LGMD2A Patient Registry that is included on the TREAT-NMD website. 

What services/resources do you provide to NMD patients and carers/families?
We educate the global community (including patients, their families, and the general public) about LGMD2A via our website, social media, and email communications. We encourage connections among patients and carers/families via our private Facebook group. It is administered by Director of Community Outreach Carol Abraham and has proven to be a valuable source of support and information among members. This is particularly important given the patient population size as many members had never met anyone with the disease until joining the group.

Do you have a website or social media account?
C3 website: www.curecalpain3.org
Global LGMD2A Patient Registry: www.lgmd2a.org
C3 Facebook page: www.facebook.com/CureCalpain3
C3 Community (Private Facebook group those living with LGMD2A and their families): www.facebook.com/groups/LGMD2A

Is there anything else you'd like to tell us about your organisation?
If you or a family member have been diagnosed with LGMD2A, please register at www.lgmd2a.org This registry helps to: (1) estimate the number of people living with LGMD2A and draw attention to the cause, (2) allow researchers to understand the progression and manifestations of the disease, and (3) locate subjects for research studies. Once registered, you will receive email updates on research progress and clinical trial opportunities. No personally identifiable information will be shared with researchers without your prior consent. This is an international database open to patients living in all countries.

Join the Share4Rare Patient Ambassador Programme!

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Share4Rare is building a global community of patients and caregivers living with a rare disease. This secure, online platform provides a space for people to connect, and addresses the isolation associated with rare diseases.  

The Share4Rare Ambassador Programme invites expert rare disease patients to join this exciting new community. Training and support will be provided to everyone who is recruited for the programme. Ambassadors will:

• Welcome new members and support them as they learn how the community works.
• Answer questions about living with a rare disease.
• Help members understand how to become involved in the research area of the platform.
• Suggest potential hypotheses for research questionnaires.
• Help members find information about managing their condition.

If you are a patient, or patient advocate who is interested in helping the Share4Rare community, please contact community@share4rare.org for more information by 30^th November 2019.

Full information about the programme is available on the Share4Rare website. 

Cure Caplain 3 Travel Grant Programme

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Coalition to Cure Calpain 3 is currently accepting applications for their Travel Grant program.

The goal of the C3 Travel Grant program is to foster early career investigators who are currently conducting research in the area of Limb Girdle Muscular Dystrophy type 2A (LGMD2A) or Calpain 3.

The grants support travel expenses to attend relevant conferences and meetings to present the investigator’s ongoing work. Grant applications are being accepted on a rolling basis through May 2020. More information can be found here.

WANTED: SMA Patient Representative for the TREAT-NMD Registries Committee (TGDOC)

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TGDOC (TREAT-NMD Global Database Oversight Committee) is a sub-committee of TREAT-NMD which oversees the TREAT-NMD registry network and associated activities. Within TGDOC there are a number of disease-specific working groups, and each one of these require a patient representative. The TGDOC SMA Working Group are currently looking for their patient representative, and they would like to invite Expressions of Interest from anyone who is interested in this position. Responsibilities will be:

1. Take an active interest in, and contribute towards the activities and work of the TGDOC SMA Working Group
2. Act as an advocate for TGDOC and the ethos of TREAT-NMD
3. Vote on TGDOC Registry Enquiries involving SMA registries

To be considered for this role you must:
1. Be a patient with SMA, or a parent of a child with SMA, or have an official role within an SMA patient organisation
2. Have a demonstrable interest in and/or knowledge of patient registries
3. Be a TGDOC member (it’s easy to join if you are not already)
4. Adhere to the TGDOC Charter (which includes signing a basic CDA so that we can share confidential information with you)
5. Not already be (a) a named contact for a TGDOC registry, nor (b) a member of the TREAT-NMD Project Ethics Council.

If you are interested, please send an expression of interest describing how you can meet these requirements, via email to the SMA Working Group Leads; Victoria Hodgkinson and Miriam Rodrigues, by no later than Monday 14th October.

TREAT-NMD Membership - Total Update

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• 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. In the past members have been able to vote on new members of the Executive Committee and the location of the 2019 conference.