Action plan 2011-2013

Achievements 2011-2013

Coordination of the Patient Registries

There was an ongoing coordination and oversight of global patient registries for DMD, SMA. The work on the creation of the global DM1 and FSHD registries is ongoing. The global database has been maintained, there has been further work done on keeping data types uniform and on handling enquiries proficiently.

The TREAT-NMD website now provides information on patient registries for CMD, CMS, CMT, DM, DMD/BMD, FSHD, GNE/HIBM, LGMD, MTM/CNM, and SMA. The website contains valuable links to other registries worldwide and is a central link to other patient registries. Some registries are national and for the more rare diseases international databases have become available. Further details can be found here.

Registry utilisation for industry-sponsored studies

Since 2011 here has been an increase in the registries being utilised for the industry-sponsored studies and the number of those is steadily growing. The services to industry have been improved and a cost recovery model to assist with long term sustainability has been devised and implemented.

Registries related publications

Since 2013 there has been an increase on the work on the publications relating to the registries: a) use of registries, b) genetic aspect of DMD c) clinical aspect of DMD. So far the following two papers have been published and the third one is currently being worked on.

1. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
   Bladen CL, et al. J Neurol. 2014 Jan;261(1):152-63
   
   
2. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
   Bladen CL, et al. Hum Mutat. 2013 Nov;34(11):1449-57

Support the establishment of additional national registries for DMD, SMA, DM1 and FSHD

A toolkit has been developed and is available on the TREAT-NMD website for those countries that are interested in creating their own national registry to feed into the currently active global registries for DMD and SMA. Further information and advice can be obtained from the TREAT-NMD Communications and Registry Coordinator.

Advice and tools for new gene-based NMD registries for additional diseases

The support has been given in the development and launch of new gene-based registries of other NMDs e.g. MTM by offering advice, expertise and a registries toolkit.

Further develop patient registries to link additional data types by establishing collaborations

The work to establish and develop linkage between the registries, biobanks and clinical trial data has commenced. A discussion with MDA about their registry and exploration of future collaborations with regards to the CTSR, standards of care and biobanks is ongoing. The work to support the development of registries to enable collection of natural history studies is currently being looked at.

Surveillance registry platform for DMD and other conditions

The work on the development of a centralised disease specific post-marketing surveillance database that will allow drug treatments to be carefully tracked and monitored in separate secure modules once marketing approval is granted has started. Existing patient registries can be linked to this centralised database. This work is hoped to continue in the coming years.

Data quality assurance

During the annual TGDOC and Curators meetings further training has been provided to the Curators and TGDOC members to improve the quality and completeness of the current dataset and ensure annual updates are achieved.