About ERN BOND
ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentine. This considerable group of diseases present a significant variation in clinical outcomes and limited research program are currently available to clarify their physio pathological bases.
The impossibility to consider all these diseases led our group to choose 3 major diseases to be prioritized as exemplar conditions: Achondroplasia, Osteogenesis Imperfecta and X-linked hypophosphatemia. The rationale for choosing these leading diseases is based on 5 central topics:
- disease frequency;
- gravity of some devastating disorders, requiring an urgent improvement in early diagnosis and management;
- difficulty and complexity of the diagnosis, requiring a dissemination of the diagnostic expertise and modern tools;
- difficulty and complexity in the treatment and management art, requiring also to ensure a better diffusion of symptomatic treatment or surgical techniques;
- current emergence of new drugs from basic research through transnational research, or through bio pharmaceutics research and development collaborations.
Although prioritisation of some diseases is mandatory for the implementation of BOND, it is important as well to keep a larger view, and progressively to open the field to other ultra rare bone diseases. ERN BOND aims to establish European specific pathways, research programmers and specific outcomes for patients to realise a European Health System.
To facilitate the organisation of scientific activities and the management of the Network, the Scientific activity of ERN BOND is structured in Working Groups (WGs). Each WG will be headed and coordinated by two experienced principal investigators – WG Leaders. They are responsible for the management of their WG scientific activities.
The main ambition of ERN BOND is to implement measures that facilitate multidisciplinary, holistic, continuous, patient-centred and participative care provision to people living with rare bone diseases (RBDs), supporting them in the full realisation of their fundamental human rights. In particular, ERN BOND aims to ensure that people living with an RBD are afforded the same standards of care and support as the ones available to other citizens with similar requirements.
ERN BOND’s aspiration is to support patients affected by rare bone diseases and their families, to increase their capacity to undertake a participative role in care provision, to set priorities and to participate in decisions regarding their care plan and their life project, in accordance with EUCERD recommendations (2013).
ERN BOND will bring rapid interchange of information, skills and practice to shorten time to diagnosis and treatment. ERN BOND will develop, together with the ePAGs, evidence/consensus-based guidelines to improve agreed outcomes in 3 exemplar conditions: Osteogenesis imperfecta (OI), X-linked hypophosphatemia (XLH) and Achondroplasia (ACH).
BOND HCPs will share clinical/phenotypic data within existing databases by developing tools to integrate and combine data from these to create epidemiological surveillance registries, allowing improved understanding of interventions and co-morbidities at an individual level, and enabling refinement and standardisation of diagnostic algorithms, management guidelines and outcomes. BOND will enable skill development through e-Health and Telemedicine platforms, alongside working visits, training courses and dissemination activities.
We expect that reduced time to diagnosis with fewer inappropriate tests, more accurate diagnosis and new viable treatments will be available within the 2-3 years and that the visibility of expert teams will be a magnet for attracting complex cases with improved communication allowing many more to receive their care locally with support from their expert centres (HCPs).
BOND works with patient representatives in all activities to ensure patient-focused developments, with patient-reported outcome and experience measures to be adopted as specific outcomes against which to assess BOND performance in improving healthcare. BOND will be instrumental for collaboration across Europe for clinical trials with novel orphan drugs, coordinated supportive care measures and translation of current research into patient benefit, alongside development of new approaches such as targeted (epi)genome editing that may be of great potential especially for the rare bone diseases.