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Orphanet J Rare Dis. 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.

Author information

1
Neuromuscular Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.
2
INSERM U1138, Centre de Recherche des Cordeliers, Sorbonne University, Paris Descartes University, Paris, France.
3
Human Genetics, CHUQ/CHUL, Québec, Canada.
4
Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), CIUSSS du Saguenay-Lac-St-Jean, Québec, Canada.
5
Centre de recherche Charles-Le-Moyne-Saguenay-Lac-St-Jean sur les innovations en santé (CR-CSIS), Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Québec, Canada.
6
Unit of Epidemiology and Clinical Research, AP-HP, Georges-Pompidou Hospital, Paris, France.
7
University Institute of Clinical Research, CHU, Montpellier, France.
8
Neuromuscular Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Paris, France. guillaume.bassez@aphp.fr.
9
INSERM, Research Center in Myology, Sorbonne University, Paris, France. guillaume.bassez@aphp.fr.

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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