Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
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
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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Orphanet journal of rare diseases. - 13 (2018) , 155, ISSN: 1750-1172
- Event
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Veröffentlichung
- (where)
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Freiburg
- (who)
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Universität
- (when)
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2021
- Creator
- DOI
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10.1186/s13023-018-0889-0
- URN
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urn:nbn:de:bsz:25-freidok-1756491
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:32 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Wood, Libby
- Lochmüller, Hanns
- Universität
Time of origin
- 2021
Other Objects (12)
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
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Recommendations for improving the quality of rare disease registries
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Health-related quality of life in patients with adult-onset myotonic dystrophy Type 1: a systematic review
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review
Reproductive cancer risk factors in women with myotonic dystrophy (DM): survey data from the US and UK DM registries
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
Analysis of the functional capacity outcome measures for myotonic dystrophy
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Disease burden of myotonic dystrophy type 1
Recommendations for improving the quality of rare disease registries
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Health-related quality of life in patients with adult-onset myotonic dystrophy Type 1: a systematic review
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review
Reproductive cancer risk factors in women with myotonic dystrophy (DM): survey data from the US and UK DM registries
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
Analysis of the functional capacity outcome measures for myotonic dystrophy
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Disease burden of myotonic dystrophy type 1
Recommendations for improving the quality of rare disease registries
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Health-related quality of life in patients with adult-onset myotonic dystrophy Type 1: a systematic review
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review
Reproductive cancer risk factors in women with myotonic dystrophy (DM): survey data from the US and UK DM registries
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
Analysis of the functional capacity outcome measures for myotonic dystrophy
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)