Action plan 2011-2013

2 - Patient Registries Biobanks

AchievementsAchievements

1 -

Coordination and oversight of global patient registries for DMD, SMA and DM1

Ensure the global database is maintained, data types remain uniform and enquiries are handled proficiently.



2 -

Data quality assurance

Improve the quality and completeness of the current dataset and ensure annual updates are achieved.



3 -

Utilise registries for industry-sponsored studies

Improve services to industry and explore the possibility of implementing a cost recovery model assist with long term sustainability.


4 -

Utilise registries for academic studies and spin-off projects

Increase academic usage of registries and develop a standardised cost recovery model for academia.



5 -

Utilise registries for patient information, education and participation

Use the registries to contact patients with information relevant to their disease with the aim of enhancing the bond that currently exists between patients and TREAT-NMD.



6 -

Develop new gene-based NMD registries for additional diseases

Support PIs in the development and launch of new gene-based registries of other NMDs by offering advice, expertise and a registries toolkit.



7 -

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

Develop a helpdesk and toolbox for those countries interested in creating their own national registry to feed into the currently active global registries for DMD, SMA & DM1.



8 -

Provide “ready to use” IT solutions for national and international registries

Develop a common software platform for those creating a new registry. Training and advice to be given. Seek to align global and national database systems where differences occur.



9 -

Further develop patient registries to link additional data types

Establish and develop linkage between the registries, biobanks and clinical trial data. Support development of registries to enable collection of natural history studies.



10 -

Set up common surveillance registry platform for DMD and other conditions

Develop a centralised post-marketing surveillance database that will allow drug treatments to be carefully tracked and monitored in separate secure modules once marketing approval is granted. Existing patient registries can be linked to this centralised database.


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.

 
12 Apr 2017