Future directions meeting - Perth 2012

Future directions meeting - Perth 2012

The meeting was an opportunity for many of the TREAT-NMD Executive Committee, Task Force members and other interested colleagues to meet in-person for the first time since the establishment of the TREAT-NMD Alliance in January 2012. The agenda was focussed on how TREAT-NMD could be used as a model for further international collaborations. Since 2007, funding has been secured for projects that have utilised the TREAT-NMD model (such as NMD-Chip, BIO-NMD and CARE-NMD). Recently using the TREAT-NMD model, grants have been approved within the last Health Call (FP7) of the European Commission (Neuromics and RD-Connect). Over the past 12 months funding has also been secured for some TREAT-NMD core activities. However there is scope to add further activities and funding to utilise the TREAT-NMD model for international collaboration.

Kathryn North (University of Sydney, Australia) presented ideas for establishing collaborative networks on gene discovery using exome and whole genome sequencing technologies linked with well characterised cohorts. A collaborative approach to gene discovery is needed and establishing a consortium based on the collaborative networks developed through TREAT-NMD, could be a good way to move forward. A consortium approach to data sharing and analysis would bring benefits, such as reduced informatics burden, standardisation of variants, access to good quality centralised resources, and decreased chances of missing a gene of interest. TREAT-NMD could provide the model for involving all the major centres in future collaborations and the TREAT-NMD website could be used as a repository for hosting and sharing data on phenotyping and accessible to the community. This could allow joint work with the new projects, RD-Connect and Neuromics, as well as others. We should look to identify new research opportunities and funding to take advantage of the platform offered currently by TREAT-NMD – not only from the EU, but from the US, etc.

Volker Straub (Newcastle University, UK) discussed how a collaborative approach could be used to establish Magnetic Resonance Imaging/Spectroscopy (MRI/MRS) as a non-invasive outcome measure in clinical trials. There is a strong case for specific MRI applications to assess muscle pathology, but comparability across centres remains challenging. However, there are also other areas where further elucidation is needed – natural history of MRI change progression, standardisation of protocols, and lack of expertise across centres. These issues will be addressed in a grant application that looks to fund these collaborative efforts, but funding will be required to support the development of IT tools and capabilities.

Ichizo Nishino (National Center of Neurology and Psychiatry, Japan) discussed the role of registries in therapy development for GNE myopathy. A number of phase I trials have been conducted, but now phase II trials are needed, which also means that patients need to be identified and natural history data collected. In Japan, the REMUDY registry is already collecting data on patients with DMD, BMD, and GNE. By linking the registry effort with that in Israel (Zohar Argov) and the planned registry supported by Ultragenyx and TREAT-NMD, could help with international harmonisation regarding data collection and establishment of other national registries. This would support increased patient recruitment into the registries, and subsequent studies, as well as collect better natural history data. TREAT-NMD could help support and harmonise this international collaboration.

The lack of global funding opportunities for global TREAT-NMD partners was discussed. Hopefully, the new IRDiRC initiative will offer new funding possibilities for these collaborations. The TREAT-NMD model of developing collaborative networks could be a way forward to support projects on data sharing.

We plan to hold another face-to-face meeting in 2013. We will keep you informed of these plans as they develop.

12 Apr 2017