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.
BOND brings rapid interchange of information, skills and practice to shorten time to diagnosis, and treatment. BOND develops, with PAGs, evidence/consensus-based guidelines to improve agreed outcomes in the 3 exemplar conditions, OI, XLH and ACH.
BOND develops guidelines that allow outcome measurement in relation to service inputs, leading to development and dissemination of best practice. BOND identifies issues relating to care and access -initial data suggest even “expert” centres are not fully equipped to provide integrated multidisciplinary care– and establish clear standards of care. BOND develops patient-reported outcome and experience measures to guide these. As new therapeutics develop – anabolic therapies in OI, FGFR3 downstream inhibitors in ACH - BOND ensures rapid access to studies for affected patients.
The ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentin. 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 nosology and classification of genetic skeletal dysplasia delineated in 2015 more than 430 various rare disorders, and more than fifty specific metabolic bone diseases, due to a disorder of mineralized tissues with bone involvement, are described to date, but without official classification. Some disorders, such as osteogenesis imperfecta (OI) or Morquio disease belong to these two categories of disorders. The principles of diagnosis, management and follow up are quite overlapping, giving a greater coherence and consistency for categorisation.
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, and the main thematic/ sub-thematic groups of disease 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.
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 centre HCP.
BOND targets less developed affiliate partners where the gap between existing provision and that aspired to through BOND is largest, meeting the target of improving healthcare in ALL Members, whether in BOND or not.
The development of the BOND network has been driven and informed by patient group (PAG) input.
BOND works with PAGs 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.
E-PAG representatives provide the patient perspective to the ERN, specifically to: ensure care is patient-centred and respects patients’ rights and choice; promote patient-centric approach in delivery of clinical care; ensure transparency; monitor ethical issues; ensure evaluation of patient experience; contribute to the development of patient information, policy, good practice, care pathways and guidelines; and participate in ERN evaluation.
E-PAG representatives will chair and/or participate to the meetings of the following BOND Governance Boards: Steering Committee, Management Committee and Scientific Advisory Board.
Working Groups (WG)
During the Kick Off meeting, nine Working Groups (WG) and 9 WG Leaders were constituted, according to specific scientific, treatment, knowledge and organization pillars.
Each WG is headed and coordinated by an experienced principal investigator as WG Lead. They are responsible for the management of their WG scientific activities. Besides WG Lead, governance boards (the Coordinator, MC, SC and SAB) will monitor that each WG is delivering outcomes that are in line with the scientific programme, and thus, with General and Specific Objectives of Directive 2011/24/EU, and successive Delegated and Implementing Decisions. WG Leaders were individuated, through voting, within the Network, by Management Committee.
ERN-BOND Questionnaire on Diagnosis of Osteogenesis Imperfecta.
A specific queationnaire was designed. The aim of this questionnaire was to provide a picture on the current situation in the 10 Member States represented within ERN-BOND in regard to diagnosis and to identify the main challenges and potential solutions that could help reduce diagnosis delays. The results of the survey fed into a White Paper that shed light on the unmet needs of patients in this specific area and serve as a basis for a dialogue with policy-makers on the challenges related to diagnosis of rare bone diseases. The idea is to launch the questionnaire used in 2017 on diagnosis and extend it to other relevant topics in subsequent years.
This questionnaire covered osteogenesis imperfecta (OI), a selected disease area ERN-BOND will cover in its first 3 years.
To gather input from both Healthcare Professionals and Patient Organisations, two questionnaires was developed through google forms and carried out in September-October 2017.
The results of the questionnaires led to the foundations of the White Paper. Data were analysed to identify the key challenges in diagnosis and compare access to diagnosis between and within Member States.
Kick Off Meeting
The ERN BOND Coordinator, Luca Sangiorgi, Istituto Ortopedico Rizzoli, organized the Kick Off meeting at the Ministry of Health, Rome on 22nd - 24th of May 2017. Here, the governance structure, Steering Committee, Working Groups, and activities for next years were decided and officially approved.
The Network undertook a scoping exercise to identify as a baseline the evidence for the existing approaches to management of rare bone diseases, and agree with relevant patient groups the critical outcomes and standards of care to be expected.
ERN BOND White Paper on Diagnosis of Osteogenesis Imperfecta:
This paper provides an overview of the state of play of OI diagnosis in the centres that participated in the survey. Even though the results are not representative of the situation in the whole of Europe, they provide important insights into existing inequalities and challenges in OI diagnosis between countries, which require further investigation.
The survey identifies areas of improvement that need a multi-stakeholder approach to increase standards and accelerate diagnosis of OI and other rare bone diseases across Europe. Political will and support at all levels of governance (local, national, European and international) are seen as crucial for the prioritisation of the future activities.
10-13 June 2017 - Presentation of ERN BOND “The ERNs as a tool of European research on rare diseases” at the “8th International Conference on Children’s Bone Health Session on Rare Bone Disease (ICCBH)”. This Conference brought together scientists and clinicians from a wide range of disciplines to gain a better understanding of the growing skeleton in health and disease.
The opening sessions provided an introduction to clinical approaches to children’s bone disease using individual examples of cases with associated pathophysiological explanations, a session on osteogenesis imperfecta and then a satellite symposium on x-linked hypophosphatemic rickets.
Each of the following days started with three parallel Meet the Expert options; the main sessions during the days covered topic areas ranging between basic and clinical science, nutrition, health services and networks, including BOND ERN, and past present and future therapeutic interventions. Additional satellite symposia provided updates on hypophosphatasia and abnormal bone formation. The dates and venue for the next meeting are yet to be announced but should be known soon.
Würzburg, Germany - Kassim Javaid.
26th August 2017 - Meeting with OIFE, for planning future collaboration with ERN BOND.
Oslo, Norway - Luca Sangiorgi, Ingunn Westerheim, Rebecca Tvedt
27th – 30th August 2017 – Oral presentation and poster of ERN BOND at the “13th International Conference on Osteogenesis Imperfecta”, OIOslo2017. During the Conference, ERN BOND settled the collaboration with OIFE for the conduction of a survey on the state of the art of diagnosis and treatment of OI in Europe. OIFE will facilitate the process of data collection, though the administration of a two questionnaires, one for the Specialists and the other for OI patients. The results of the survey will feed the White Book on Rare Bone Diseases 2017.
As a result of the dissemination activities regarding BOND, HCPs from Norway, Netherlands, Lithuania and Austria showed interest to join the Network and requested information on the applying procedures.
The ERN BOND HCPs representatives attending the meeting, joined the Coordinator to discuss on the content of the questionnaire for the White Book.
Oslo, Norway - Luca Sangiorgi, Ingunn Westerheim, Rebecca Tvedt, Lenja Wiehee Valerie Cormier Daire, Kassim Javaid.
27th July 2017 - Presentation of ERN BOND at the meeting “MonitoRaRe – Report 2017”. The III Report on rare disease condition in Italy, is issued by Italian Rare Disease Federation UNIAMO F.I.M.R. onlus, thanks to the collaboration with the Italian Ministry of Health, the Regional RD Coordination Centres, AIFA, CNMR-ISS, Orphanet, Telethon, TNGB and EURORDIS. The report offers an updated picture of the national and european situation on RDs, with a specific focus on social, research and care responsibilities.
Italian Parliament, Italy - Luca Sangiorgi
27th July 2017 – Meeting with Brittle Bone Diseases Consortuim (BBDC) USA for a structured collaboration. Collaboration will be further discussed during the 13th meeting of the International Skeletal Dysplasia Society (ISDS), 20-23 September 2017, Bruges
Oslo, Norway - Luca Sangiorgi, Con Vernon Reid Sutton (BBDC) USA
6th September 2017 – Meeting with CHAFEA Project Officer to discuss state of the art of activities performed and future activities to implement within ERN BOND.
Luxembourg - Luca Sangiorgi, Matias de la Calle, Paola D’Acapito.
7th September 2017 – Meeting with Lauro Panella, cabinet of the European Parliament president, Antonio Tajani, for the presentation of the White Book at the European Parliament.
7th September 2017 – meeting with EURORDIS for a presentation of ERN BOND during a Parliament audition in February-March 2018. Received requests from aspirant HCPs to join ERN BOND.
Bruxelles – Luca