Paediatrics Publications
Document Type
Article
Publication Date
9-5-2018
Journal
Orphanet Journal of Rare Diseases
Volume
13
Issue
1
First Page
155
Last Page
155
URL with Digital Object Identifier
https://doi.org/10.1186/s13023-018-0889-0
Abstract
Background
Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania).
Results
The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact.
Conclusions
The community should consider how to maximise this collective resource in future therapeutic programmes.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Notes
Article originally published at Orphanet Journal of Rare Diseases
https://doi.org/10.1186/s13023-018-0889-0
© 2018 The Author(s)