The ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentin. This considerable group of diseases present a significan...
The ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentin. This considerable group of diseases present a significant variation in clinical outcomes and limited research program are currently available to clarify their physiopathological bases.
This large field may be shared in two main categories, skeletal dysplasia and metabolic bone diseases. These 2 categories themselves are subdivided in several thematic and sub thematic groups.
The impossibility to consider all these diseases led our group to choose 11 main thematic groups, and, among these groups, to emphasize 3 major diseases that will be prioritized, serving as a starter/template for the 2 first years: Achondroplasia, Osteogenesis Imperfecta and X-linked hypophosphatemia. The rationale for choosing these leading diseases is based on 5 central arguments: 1/ disease frequency 2/ gravity of some devastating disorders, requiring an urgent improvement in early diagnosis and management 3/ difficulty and complexity of the diagnosis, requiring a dissemination of the diagnostic expertise and modern tools; 4/ difficulty and complexity in the treatment and management art, requiring also to ensure a better diffusion of symptomatic treatment or surgical techniques ; 5/ current emergence of new drugs from basic research through translational research, or through biopharmaceutics research and development collaborations. Although prioritization of some diseases is mandatory for the implementation of BOND, it will of course be important to keep a larger view, and progressively to open the field to other ultrarare/“forgotten” other bone diseases ERN. BOND will establish European specific pathways, research programmers, and specific outcomes for patients in order to realize a European Health System.