TREAT-NMD Executive Committee seeks a New Patient Representative

TACT Review Meeting Successfully Conducted Online

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Due to the current restrictions on face-to-face meetings and an inability to travel, the Spring Bari 2020 TREAT-NMD Advisory Committee for Therapeutics (TACT) meeting was held online from 25-26^th April. Following agreed procedures and strict timings, the TACT panel discussed two applications for advice on therapy development programmes from pharmaceutical companies. Whilst everyone missed the face to face interaction, the meeting was extremely efficient and managed to successfully follow the usual format with the applicants ‘joining the room’ for discussion about their application for part of the meeting as always. Despite our geographical distance, from San Francisco to Perth (Australia), the discussion, questions, analysis and debate were as rigorous and engaged as ever, with hardly a technical hitch. This was in spite of some reviewers dialling in at 3am, and others staying online until 11.30pm due to time zones – the commitment and efforts made were impressive!

The next steps will be for the lead reviewer of each application to compile a comprehensive and confidential report for the applicants based on the opinions of the expert review committee within the next 6 weeks. Shortly after, a brief non-confidential summary will appear on our website.

Meanwhile, planning for the next meeting continues – scheduled just before World Muscle Society in Halifax on 28-29^th September 2020, and we now know that we will be able to proceed, even if face-to-face meetings are still an impossibility.

Following that, TACT will be in Bari, Italy on 1-2^nd May 2021 and in North America on 23^rd-24^th October later that year. Anyone (industry, academic groups or patient organisations) interested in submitting an application for advice should get in touch with the Secretariat via Cathy Turner. 

More information about TACT can be found by clicking on Read More below. 

TREAT-NMD LGMD Data Set Development Update

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It is exciting times for Limb Girdle Muscular Dystrophies (LGMDs), with clinical trials on the horizon.

The TREAT-NMD LGMD advisory committee is working closely with the TGDOC, with the aim of developing an agreed core data set for the LGMDs.

As a first step, we would like to develop a better understanding of the current LGMD registry landscape worldwide.

To this end, a survey was developed in 2019 and circulated to those who were known to be collecting LGMD data as per the 2018 TGDOC survey, or who were known to be leading LGMD specific registries. 

Thank you to those of you who have completed this to date.

We have received responses from 20 registries, representing a total number of 3619 LGMD patients. We will be in touch about follow ups in some cases.

Following the 2020 TGDOC survey we believe there may now be more TGDOC members collecting or interested in collecting LGMD data going forward. If this is the case for your registry, we would be most grateful if you could take the time to respond to this survey.

To complete the survey please follow the link

We want to be sure to engage with all stakeholders and ensure their involvement throughout the process. It will be our priority to keep all stakeholders who respond to the survey informed.

For further information please contact Dr Michela Guglieri or Katie Pegg

Update to the TREAT-NMD Charter

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After a process of extensive review and revision the TREAT-NMD Charter has been updated. 

First drafted in 2011, the Charter forms the foundation for all TREAT-NMD Alliance activities and governance. It provides guidance on membership, the TREAT-NMD Executive Committee, the Secretariat and much more. 

To view the updated TREAT-NMD Charter please go to the TREAT-NMD website. If you have any questions on the Charter please contact info@treat-nmd.org.  

NOA Project Grant Opportunity

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The NOA Project has released details of a Collagen VI Myopathies pilot grant programme. The programme provides a grant for up to two years for a total cost of $50,000 to support research related to Collagen Type VI Myoptahies (COLVI).

The programme is seeking grant applications that aim to advance the discovery or development of treatments and/or cure for COL6A2 PTC mutations. There are gaps which exist in the basic understanding of COLVI protein. Basic science projects that address these gaps are also welcome, provided they are tethered to the development of a potential therapy. Priority will be given to grants that cover the following areas: 

1. Novel therapeutic approaches for Stop Mutations in COLVI Myopathies, including but not limited to techniques in genome editing
2. Targeting, Interstitial fibroblasts have this far shown decreased efficacy in molecular and viral targeting
3. Complements, investigation into other types of collagen or mutations that can help ease the effects of lack of COLVI. 
4. Unravelling pathways involved in disease to provide a deeper understanding such as protein translation, downstream effectors and collagen heterotrimer formation, and intracellular signalling. 
5. Testing new strategies to treat disease or any of its incapacity consequences 
6. Discovery and validation of biomarkers (molecular and functional) with the goal to have clinical setting impact.

A letter of interest should be submitted by 28th May. Proposals should be submitted by 22nd July. For more information, full application instructions, review criteria please, eligibility criteria etc. contact etawachi@gmail.com or go to the NOA project website. 

New Issue of Journal of Neuromuscular Diseases Published

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A new issue of the Journal of Neuromuscular Diseases (Volume 7 Issue 2) has been published this month. 

The Journal aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. 

Issue 7:2 contains articles on Pseudoexons of the DMD Gene, the relationship between eating and digestive symptoms and respiratory function in advanced DMD patients, clinical and genetic features in a series of eight unrelated patients with neuropathy due to Glycyl-tRNA Synthetase (GARS) variants and much more. 

To find out more about the Journal readers can subscribe to the JND Newsletter. 

New Rare Barometer Voices Survey Launched

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Rare Barometer Voices has launched a new survey which asks rare disease patients to share their experiences of the affect the COVID-19 crisis is having on their lives. 

The goal is to voice the specific needs of rare disease patients’ in relation to the COVID-19 pandemic and to propose practical solutions to ensure rare diseases patients are taken into account when handling the pandemic.

By collecting information on how the COVID-19 pandemic is affecting patients’ care, social care, employment situation and mental health, EURORDIS will be able to better understand the impact of this unprecedented situation.

A participant's contact details and any written records of their responses during the study will be kept in secure storage which only the EURORDIS research team can access.

The survey has been translated in 23 languages and should take no longer than 15 minutes to complete.

If you have any questions while taking part in this survey, please contact rare.barometer@eurordis.org.

New Translations Available of WMS COVID-19 NMD Advice

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The COVID-19 outbreak is increasingly impacting countries worldwide, with many undertaking restrictive measures on their citizens to contain the spread of the virus, including recommendations that all those with a rare disease should self-isolate for 12 weeks.

As neuromuscular conditions are considered rare diseases, TREAT-NMD highly recommends following the advice of your national authority, and the World Health Organisation. Dr. Maxwell S. Damian, PhD, collated the World Muscle Society (WMS) COVID-19 advice for neuromuscular patients, carers, general neurologists and non-specialist medical providers. This document is also intended to inform neuromuscular specialists particularly regarding frequently asked questions and basic service requirements.

The advice is endorsed by the Members of the Board of the WMS, colleagues from the Editorial Board of Neuromuscular Disorders, the official journal of the WMS, European Academy of Neurology (EAN) Scientific Panel Muscle & NMJ disorders, and EURO-NMD's Executive Committee.

The original document has now been translated into many different languages and is subject to revision every three days. For the latest information and translations please go to the World Muscle Society website.

Dates of 2021 TACT Meetings Confirmed

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The dates for the 2021 meetings of TACT have been confirmed.

The TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary, international group of well recognized academic and industry drug development experts, as well as patients and/or patient representatives. TACT meets twice a year to review and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases with large unmet need. The confidential and comprehensive review provides recommendations including go-no-go milestones, is independent of any funding stream however it may enable subsequent funding. 

The meetings will take place as follows: 

• 1^st  -2^nd May 2021 – Bari, Italy
• 23^rd - 24^th October 2021 – North America

New Edition of the GNE Myopathy International Patient Registry Newsletter Published

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This month’s edition features a patient story (picture opposite), information on a neuromuscular pilot survey from Share4Rare, events and more.

The registry 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 the registry is 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 Lucy Imber. 

ECRD Online Conference 2020 - Still time to Register

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With less than two weeks to go until the 10th European Conference on Rare Diseases & Orphan Products (ECRD) there is still time to register for the online conference. 

The ECRD is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

Leading, inspiring and engaging all stakeholders to take action, the Conference is an opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community  – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators.

Join online to take part in discussions to inform and build the future ecosystem for rare disease policies and services. 

For more information please go to the conference website.