French National Programme on Rare Disease Cohorts

  The Rare Disease Cohorts Programme « RaDiCo » is coordinated by « Inserm », the French Institut of Health and Medical Research. RaDiCo is a part of the « Investissements d’Avenir » cohorts programme, managed by the National Agency of Research « ANR » IO-COHO-03.

The RaDiCo program

RaDiCo (Rare Disease Cohorts) is financed by the Ministry of Research until December 2019 in the amount of € 10,072,118 in the context of the 'Cohorts' program of Investissements d'Avenir (Investments for the Future) managed by the National Research Agency (ANR). The program is designed to equip France with major epidemiological instruments enabling enhanced elucidation of health determinants, optimization of medical practices and optimization of public health policies related to patients with rare disease.

The principal objective of RaDiCo is prospective collection, in the field of rare diseases (RD), of extensive phenotype data with a view to clinical and epidemiological research in liaison with translational and basic research. The data may be diverse:  anatomical (medical imaging), biochemical, molecular, etc.

In order to fulfil its objective, RaDiCo is based on a network of 131 rare disease reference centers (CRMR) and 501 rare disease competence centers (CCMR) covering all the identified RD health trajectories, with 54 teaching hospital molecular-diagnostic laboratories, and with biological resource centers, RD research laboratories and registries and patient associations.

The challenges in setting up RD cohort programs relate to the dispersion of the very numerous teams involved (healthcare and research, numerous supervisory organizations), the heterogeneity of the resources allocated depending on the RD and the heterogeneity of the existing information systems and databases (in the clinical, imaging and laboratory fields).

The data to be processed in the context of the RaDiCo program are highly diverse and depend on the specificities of each cohort followed up. The data will require new approaches to biomedical information processing. The information collected will be used to determine phenotype/genotype correlations, advance knowledge of the natural history of the disease, determine the associated pathophysiological mechanisms and identify/validate new therapeutic avenues in partnership with industry. The analyses of the data collected will be implemented in cooperation with all the players involved. The data will be processed in compliance with the protocol defined for each cohort. The data will enable, depending on the case and in a non-exhaustive manner, the following:

  • Validation and formulation of recommendations to enhance diagnosis and patient management
  • Generation of public health indicators:  risk factors, disease incidence (new cases), degree of severity, degree of handicap, and mortality
  • Contribution to research programs designed to enhance knowledge of RD in liaison with basic research teams
  • Orientation of the development of new therapeutic strategies in liaison with industrial partners or validation of existing approaches
  • Enhancing knowledge in the socioeconomic field with a view to enhanced organization of healthcare offer.
  • Tools for the management of metadata catalogs facilitating implementation of the e-CRF (electronic case report form)
  • Compiling interoperability solutions with and between the existing databases (clinical, genetic, imaging, etc.) through implementation of new information-processing modes (web services, RFD, open data)
  • Models of ontology facilitating contextualization of the information to be processed, by medical specialty, on the basis of the available terminological and ontological resources
  • Use of new ontological alignment approaches

The RaDiCo operational team consists of a centralized expert platform, services and tools enabling RD cohort setup and monitoring in France. The cohort projects will be selected subsequent to periodic calls for projects targeting, in particular, the "Filières de Santé Maladies Rares". The RaDiCo platform is located in Paris, at Trousseau Hospital, with a mobile team to ensure the setup of the tools and cohort follow-up procedures on the patient inclusion clinical sites.

The mission of the RaDiCo Clinical Research Unit is to ensure the setup of cohort clinical studies in accordance with good clinical and ethical practices in the field involved and to optimize the timeframes for obtaining the necessary regulatory authorizations (CNIL[1], CCTIRS[2], CPP[3]). The team also contributes to quality control and data management using the proposed innovative information systems and to training the personnel involved on the sites contributing to the cohort project selected in the context of the RaDiCo calls for projects.

The RaDiCo Information Systems (IS) Research Unit, consisting in experts in medical information technology, systems architecture and semantics, is responsible for developing the methods and tools facilitating data collection, management and processing, and knowledge of the cohorts supported. The team works in close cooperation with the National Rare Diseases Database (BNDMR) team. The operations of the IS Unit target:

 

  • Tools for the management of metadata catalogs facilitating implementation of the e-CRF (electronic case report form)
  • Compiling interoperability solutions with and between the existing databases (clinical, genetic, imaging, etc.) through implementation of new information-processing modes (web services, RFD, open data)
  • Models of ontology facilitating contextualization of the information to be processed, by medical specialty, on the basis of the available terminological and ontological resources
  • Use of new ontological alignment approaches
  • Incorporation of progress in the field of new information technologies applied to biomedical research (Smartphone applications, social networks, e-health tools, etc.).

 


 


[1] CNIL:  National commission for information technology and freedom.

[2] CTTIRS:  Advisory Committee on the processing of research information in the health field.

[3] CPP:    Institutional review board/Ethical committee