Save the Date – TGDOC Annual Curators’ Meeting 2020

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The TGDOC Executive Board are pleased to announce that this year’s TGDOC Annual Curators’ Meeting has now been confirmed to take place as a virtual meeting. This will be held on Tuesday 1st and Wednesday 2nd December 2020. Meeting start and end times have not yet been finalised, but will likely start no earlier than 12:00 GMT and finish no later than 18:00 GMT. Every effort will be made to facilitate participation from all over the world, and all sessions will be recorded. Disease-specific subgroup meetings will be held the day before the main meeting, on Monday 30th November. Please save these dates in your diaries now, further information will be circulated in due course.

Hello from the TREAT-NMD Secretariat!

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A warm welcome to our new Secretariat Team members, a number of whom are new employees of the TREAT-NMD Enterprise. These new members will be managing projects, dealing with enquiries and handling day to day queries. They will work with the existing Secretariat with the ever-increasing number of TREAT-NMD activities required to support the TREAT-NMD Global Membership Alliance and associated rare disease communities.

Annemieke Aartsma-Rus say “The executive committee of TREAT-NMD is very appreciative of the competent and profession support provided by the secretariat and we welcome the new members.”

Please see the TREAT-NMD Secretariat webpage for further information, including contact details for individuals and links to specific project pages.

DMD Expanded Core Dataset & Universal Registries Platform Project

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Recognising a need to update and develop the existing TREAT-NMD dataset, a working group of key opinion leaders, patient representatives & registry curators from around the world was established in 2019. This group met at a workshop in Amsterdam in June 2019 to reach initial consensus on an Expanded Core Dataset (ECD). After subsequent additional feedback, Version 1 of the ECD was agreed in April 2020 ready for testing.

Meanwhile, funding for this project has been agreed, a project team is now recruited and 13 registries from Europe, the US and Canada have joined a pilot exercise to carry out this testing. The pilot will undertake to:

• Perform a gap analysis of the ECD vs the data set currently collected in each
  pilot registry
• Identify challenges of integrating the ECD into existing platforms 
• Establish the feasibility of data collection for each data item in a clinical or a
  patient setting

Alongside this, a new TREAT-NMD Universal Registries Platform (URP) is being developed, to assist DMD registries to collect the ECD, which in turn, will lead to a more efficient mechanism of data collection and analysis for TGDOC Registry Enquiries - even where these are of increasing complexity. A number of registries in the pilot project will undertake beta-testing of this new URP.

For further information on this or any other aspect of the project, please contact the Project Manager John McKenna.

XVIII International Conference on Duchenne and Becker Muscular Dystrophy

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Last February, Parent Project aps – the Italian organization involving patients and parents of children with Duchenne and Becker Muscular Dystrophy - had to cancel the 18th edition of its annual International Conference due to the Covid-19 outbreak.

Despite the uncertain times, as Parent Project’s President Luca Genovese likes to quote "It's better to be optimistic and wrong, rather than pessimistic and right". Therefore, the organisation decided to stick to its schedule and is now inviting everyone to save the following dates on their agenda:

2021 Parent Project aps International Conference 
February 19-21 
Rome - Ergife Palace Hotel, Via Aurelia, 619 - 00165 Roma - Italy

Along the years the Conference turned into one of the main international reference events in the field of DMD/BMD. The latest Conference, held in 2019, involved approximately 650 participants, including clinicians, industry representatives, researchers, patients and members of patients’ organisations from around 30 countries. The 2021 Conference  will offer, once more, plenty of opportunities for information and study for the entire Duchenne and Becker community.

For many years this event has had the aim of disseminating updates about ongoing research and clinical trials at its core; along the years, Parent Project started dedicating increasingly more space to social and psychological topics, as well, in order to discuss important aspects of daily life with families.

Outcome Measure Library for SMA Reported Registries

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The TREAT-NMD SMA Dataset team have produced a quick-reference tool to help SMA patient registries choose and implement the right outcome measures for their patients. 

The Outcome Measure Library includes all validated outcome measures currently in use for SMA, to our knowledge, including those listed in the TREAT-NMD SMA Dataset. The aim of this resource is to support independent decision-making on which outcome measure is most suitable for the individual being assessed. 
The Library contains the following information (where available) for each outcome measure:
• Type of OM (Motor or PROM)
• Suitable age range / level of function
• Available languages
• Terms of use
• Link to scales 
• Link to manual
• Training required
• Average time needed per patient
• Equipment needed
• 2 Key references
• Notes or further information
Users of the Outcome Measure Library are welcome to provide feedback on its usefulness, any missing information or any additional outcome measures or PROMS, used for SMA, that should be included. Feedback can be provided by completing this online feedback form.

The Outcome Measure Library is publicly available on the SMA Dataset Project page of the TREAT-NMD website.

TGDOC DMD Subgroup Update

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The DMD Subgroup has not had a formal meeting since we met in Leiden last December, but we are looking forward to meeting virtually this fall and having more consistent meetings throughout the year.  Many DMD registries are busy participating in the pilot of the Expanded Core Dataset and there have been several meetings focused on that project.

In other news, PPMD just completed their first Virtual Annual Conference, held July 22-25. The conference was a success with a record number of registrants (over 2,200). Recordings of all sessions will be available on the PPMD website in the near future.

Several TREAT-NMD DMD registries also submitted data for a recent publication in the Journal of Neuromuscular Disorders:  Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review.  Journal of Neuromuscular Diseases 7 (2020); 217–229.  Waldrop MA, et al.  DOI: 10.3233/JND-200483