Updates from the TGDOC Subgroup Leaders

‌

TGDOC has a number of disease specific subgroups. Each subgroup has a leader and each one works collaboratively on projects to promote the work of the registries within the network. We aim to have an update from all subgroup leaders in the next newsletter which will be published later in 2019. 

FSHD - Rosella Tupler 
Rosella attended the International Research Congress in Marseille in June. Whilst there she presented a summary of the patient registries and discussed the updating of the FSHD core dataset. Rosella would like to organise a consensus conference in Italy at some stage. 

SMA - Victoria Hodgkinson & Miriam Rodrigues
Victoria and Miriam are working on a draft publication on the expansion of the current SMA dataset. 

DM1 - Richard Roxburgh 
As well as the subgroup meeting, which took place at IDMC-12, Richard issued a survey to the DM1 registry curators which requested basic demography and information regarding definitions of childhood DM1. This information was presented in the form of a poster at the IDMC-12 conference in June 2019. Data on more than 7000 DM1 and 1000 DM2 patients was able to be amassed and presented. Richard would like to thank all those who assisted in the authoriship of the poster. Richard is now in the process of contacting each of the DM registries which does not currently have a CDA in place with TGDOC/Newcastle University. This will ensure that all registries can participate in TGDOC activities. 

DMD - Ilaria Zito and Ann Martin
Ann and Ilaria are focussing their efforts on the larger project of revising the DMD core dataset. A meeting of the DMD subgroup, at the WMS conference, is currently being planned and TGDOC curators will be contacted in due course. The PPMD Duchenne Registry is in the final stages of transition to a new mobile app platform. It will hopefully be launched later this summer. 

LGMD - Michela Gugleri
The main stakeholders involved in NH studies in LGMD met for the first time on 18^th June. The work of the group will feed into the wider development of the LGMD dataset. The LGMD subgroup is currently looking to establish an advisory group for its work on the LGMD dataset. It is envisaged that, under the umbrella of the advisory group, there will be a number of working groups and volunteers will be sought from the TGDOC community to be part of these groups. Michela looks forward to providing more updates in the near future and will be meeting with curators at the face to face meeting in December

CMT - Mike Shy 
No update 

Expansion of the TREAT-NMD DMD Registry Dataset - First Workshop held in June

‌

Members of the TREAT-NMD DMD registry working group met in Amsterdam on 17^th June 2019 to discuss and reach consensus on the first steps towards a much-needed expanded core data set for the TREAT-NMD DMD registries.

Participants were provided with the current list of mandatory and highly recommended items in advance of the meeting and asked to provide input on their inclusion along with additional data items in an expanded dataset. With a view to meeting the needs of the patient community, clinicians and industry for trial recruitment, natural history, feasibility enquiries, communication and post-marketing surveillance, stakeholders from all three groups were consulted and invited to the meeting.

Presentations were given by the EMA (Xavier Kurz), the FAIR data team from Leiden (Mark Thompson and Marco Roos) and OpenApp (Cormac O’Brien) along with brief summaries of industry priorities from Wave, Sarepta, Italfarmaco and Santhera.

This was followed by a closed session where, with the help of a facilitator, the working group discussed data items until a broad consensus was reached on those that were felt to be a very high priority (mandatory), a priority (highly recommended) and a lower priority (additional items).

One message that was apparent was that the priorities of patients and families and those of clinicians overlap considerably, but that there are important differences. In addition, some data items are much more feasible to collect where there is clinician entry into a registry and others are more feasible where there is patient entry. These differences will be reflected in the final datasets agreed and it may be that there are some different items included, depending on the type and purpose of an individual registry.

This is an exciting and important piece of work currently supported largely though an unrestricted grant from Sarepta. The next steps are to gather wider feedback from stakeholders on the proposed data items – with particular attention on priorities and feasibility. TREAT-NMD hopes to then pilot the new, expanded dataset/s in different types of registry to further check feasibility of collection. Registries wanting to be part of this pilot should get in touch with Craig or Nathalie and we will also be pro-actively reaching out to curators about this.

By working together across patient groups, clinicians and industry stakeholders, TREAT-NMD hopes to continue to work on the DMD dataset at a pace and aim for a new dataset which can be collected or entered on a central platform in 2020. We also plan to seek EMA qualification for this revised dataset, in particular to support post-marketing surveillance.

A full report will be available in the next TREAT-NMD newsletter. Meanwhile, further information is available from Cathy Turner, DMD Liaison Coordinator at the John Walton Muscular Dystrophy Research Centre and TREAT-NMD Secretariat. 

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

‌

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.

The 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. There will be a limit on the bursary provided based on geographical location; guidelines will be available shortly so curators are advised not to book flights and accommodation just yet. 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.

TGDOC Publications Committee

‌

The TREAT-NMD Global Database Oversight Committee (TGDOC) has recently established the TGDOC Publications Committee, chaired by Dr Rasha El Sherif. 

The aim of the committee is to highlight, collect and encourage publications and academic research using TGDOC affiliated registries. The Committee will act in an advisory capacity to the TGDOC Chairs and will provide recommendations based on a majority vote. 

The publication committee would request that all abstracts or manuscripts that describe or use data from multiple TREAT- NMD registries be submitted for review prior to presentation or publication.  If you are presenting data only from your national/regional registry then it is not required but the committee is available for help.  And of course we would like to be aware of all academic products from our member registries so we can celebrate these successes'

The Committee would like to encourage TGDOC Subgroup leaders, and curators, to work together to author posters or articles harnessing the collective data available through the registries. If you wished to discuss any ideas you may have with the publications committee please contact Hannah Murray. 

GNE Myopathy International Patient Registry is now live!

‌

The GNE Myopathy International Patient Registry is now live! The website has been offline while changes were made due to Ultragenyx stepping away from the project and handing responsibility over to the team based at the John Walton Muscular Dystrophy Research Centre (Newcastle University), and TREAT-NMD.

Existing participants can now log back in and update their records and fill in their next survey. We are starting the surveys again from now, and will not be collecting data for the period when the website was offline.

New participants are now also able to sign up to the registry using the online website platform, and can create their own accounts.

For any queries or questions, please contact the registry coordinator, Lucy Imber.  

The John Walton Muscular Dystrophy Research Centre: Patient Registries and Clinical Trial Registers

‌

To make the patient registries at the John Walton Muscular Dystrophy Research Centre more visible they have now submitted more than half of them to the largest clinical trials registry (clinicaltrials.gov) in the world. The aforementioned patient registries are provided below with the corresponding URL and contact details for the registry coordinator who should be able to respond to any questions you may have:
 
International GNE Registry - lucy.imber@newcastle.ac.uk
Global FKRP Registry - registries@ncl.ac.uk
UK DM Registry - ben.porter@newcastle.ac.uk
UK FSHD Registry - ben.porter@newcastle.ac.uk

A Gentle Reminder...

‌

• Have you completed the registries review?
• Have you responded to any requests to put in place or renew your registry's CDA?
• Have you registered for the TGDOC meeting in December 2019?
• Have you checked the information we currently hold on your registry is up to date on our new website?