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.

Notes

Article originally published at Orphanet Journal of Rare Diseases

https://doi.org/10.1186/s13023-018-0889-0

© 2018 The Author(s)

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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