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. 2019 Jun 3;14(1):122.
doi: 10.1186/s13023-019-1088-3.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Marie De Antonio  1   2 , Céline Dogan  1 , Ferroudja Daidj  1 , Bruno Eymard  1 , Jack Puymirat  3 , Jean Mathieu  4 , Cynthia Gagnon  4   5 , Sandrine Katsahian  2   6 ; Filnemus Myotonic Dystrophy Study Group; Dalil Hamroun  7 , Guillaume Bassez  8   9
Collaborators, Affiliations

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Marie De Antonio et al. Orphanet J Rare Dis. .

Abstract

Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously.

Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials.

Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.

Keywords: Medical care; Myotonic dystrophy; Platform; Rare disease registry; Research.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
DM-Scope data processing and quality control
Fig. 2
Fig. 2
Functionalities and database interface
Fig. 3
Fig. 3
Cartography of place of residence of enrolled DM participants. a The individual representation (N = 2875). Each dot refers to one patient place of residence and dots position is allocated to a random position in the corresponding department (top left). b The regional distribution according to the density of population (N = 2875). Darker the green is, more the DM is prevalent in the department (top right). c Distribution of DM-Scope Registry enrolled patients among paediatric French neuromuscular expert centres (26 centres, N = 255). The number of enrolled patients is spot-size dependent (bottom left). d Distribution of DM-Scope Registry enrolled patients among adult French neuromuscular expert centres (29 centres, N = 2620). The number of enrolled patients is spot-size dependent (bottom right)
Fig. 4
Fig. 4
Cumulative number of participants in the DM-Scope Registry. The green line represents the number of included DM patients and the blue/grey line the number of first/second followed-up DM patients over time
Fig. 5
Fig. 5
Kaplan-Meier curves for all-cause mortality. The red line indicates the survival of the overall registry DM population; the dark dotted lines represent survival of subgroups in the 33 individual neuromuscular centres (only centres including more than 10 patients are selected)
See this image and copyright information in PMC

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