France has positioned itself as a leader in rare disease research, patient care, and data management through the development of the French National Database of Rare Diseases (BNDMR). This comprehensive and secure national health data repository is a fundamental component of France’s national rare disease plans (PNMR), with over 750,000 registered patients across more than 2,200 expert centers.
BNDMR: Key features and strategic importance
- Comprehensive and standardized data collection
The BNDMR collects detailed medical data using Orphanet nomenclature, ensuring a standardized and precise classification of rare diseases. This system facilitates a robust understanding of disease prevalence, progression, and patient demographics, contributing to both healthcare optimization and research advancements.
- A valuable resource for clinical research
The database has enabled the identification of large, well-characterized patient cohorts for hundreds of rare diseases, often exceeding the sample sizes reported in global studies. This extensive dataset provides a unique opportunity for clinical trials, accelerating patient recruitment and enhancing the statistical power of research findings.
- A well-structured network of expertise
France’s rare disease network demonstrates an exceptionally high level of participation, with 97% of expert centers actively contributing to the database. This broad engagement ensures data consistency and reliability, reinforcing the BNDMR as a critical tool for evidence-based decision-making in rare disease management.
- Support for healthcare planning and regulatory reporting
By systematically tracking diagnostic timelines, treatment pathways, and disease evolution, the BNDMR plays an essential role in healthcare planning and policy development. Furthermore, it supports regulatory reporting requirements for rare disease treatments, facilitating market access for orphan drugs and enhancing patient care.
- An integrated and scalable model
The BNDMR is structured around a two-tiered system:
- BaMaRa (local level): a hospital-based application that collects patient data within individual institutions.
- BNDMR (national level): a centralized repository aggregating anonymized data from BaMaRa, ensuring national-level integration and interoperability with healthcare systems.
This approach not only enhances data accessibility and quality but also serves as a model for similar initiatives in Europe and beyond.
Implications for the rare disease and orphan drug sectors
The BNDMR represents a strategic resource for pharmaceutical companies, biotechnology firms, and research institutions involved in orphan drug development. By providing access to one of the world’s most comprehensive rare disease datasets, it facilitates targeted clinical research and innovation, improved epidemiological studies, accelerated regulatory approvals and enhanced patient access to innovative treatments.
The French registry for rare diseases is an outstanding example of national data integration and has proved to be a valuable tool for the local healthcare and pharmaceutical sector. Its success highlights the underlying potential for other EU countries to establish their own national rare disease databases as well.
A widespread adoption of such registries would significantly enhance cross-border knowledge sharing and communication among research institutions, creating a more interconnected and collaborative European research environment.
For pharmaceutical companies, national databases are invaluable in identifying eligible patient populations for clinical trials, streamlining recruitment processes and increasing the feasibility of studies in rare diseases.
Establishing interconnected national registries across Europe would not only boost scientific discovery and therapeutic innovation but also ensure that patients living with rare diseases benefit from more coordinated, timely and effective care.