Working Groups

All the activities are carried out within 9 Thematic Working Groups. Each WG has leaders in charge to manage and coordinate the WG scientific activities. Patient representatives are present in each WG and work together with the experts.

View Working Group Leaders

Objectives

To promote good quality and safe care to patients suffering from Rare Diseases (RD)

WG1 DIAGNOSTIC CHALLENGE will pull together the best practices and procedures in the treatment of Rare BDs and will elaborate a first version of the Standardized Protocol for the treatment of OI. The provisional Protocol will be evaluated by specialists within the Network, according with scientific knowledge and evidences from clinical practices and most recent research outcomes.

  • Understand what the current practices are in different HCP’s focusing initially on OI and achondroplasia
  • Develop an idea of the diagnostic challenges, especially pertaining to diagnosis of rare bone disorders (not exclusive to OI)
  • To develop routines for good clinical practice in diagnostics (with WG3)
  • To develop routines for rapid interchange of information, skills and practice to shorten time to diagnosis and treatment (with WG7)
  • To develop evidence based clinical guidelines (starting with OI and achondroplasia and in collaboration with WG2).

Objectives

To promote good quality and safe care to patients suffering from Rare Diseases (RD), To promote collaborative research within the ERN, To reinforce research and epidemiological surveillance, through setting up of shared biobanks and registries.

The identification, as a baseline, of the evidence for the existing approaches to management of rare bone diseases.

The identification of priorities, according to strengths and weaknesses, for the implementation of actions, in accordance with ERN BOND Work Plan.

WG2 REASEARCH will implement the five-year-research plan developed in Year 1. The implementation plan will act on the following research areas:

  1. The epidemiological characterization of RD
  2. Functional studies to establish disease-specific pathogenetic mechanisms.
  3. Characterization of the genetics and epigenetics of RDs
  4. Facilitate the development of clinical trials in this field with particular focus on appropriate clinical end points.
  5. Standardize protocols of evaluation and intervention decreasing heterogeneity in diagnosis and treatment.

The 5 areas of research investigations we will focus on are:

  1. The epidemiological characterization of RD disorders (epidemiological surveillance plan: agree standards of epidemiological surveillance and develop collaborative surveillance across ERN members).
  2. Functional studies to establish disease-specific pathogenetic mechanisms.
  3. Characterization of the genetics and epigenetics of RD through NGS models, allowing validation at a population level.
  4. Facilitate the development of clinical trials in this field with particular focus on appropriate clinical end points.
  5. Standardize protocols of evaluation and intervention decreasing heterogeneity in diagnosis and treatment.

WG2 will aim to implement the five-year research plan in 5 areas of investigation, including the production of epidemiological surveillance plan, and to collaborate with the other relevant WGs in the development of multidisciplinary knowledge and expertise plan for clinical care of patients with rare disease.

Objectives

To exchange, gather and disseminate knowledge, evidence and expertise within and outside the ERN, To develop and implement clinical guidelines and cross-border patient pathways, To design and implement outcome and performance indicators.

  • The identification, as a baseline, of the evidence for existing approaches to management of rare bone diseases.
  • The identification of priorities, according to strengths and weaknesses, for the implementation of actions, in accordance with ERN BOND Work Plan.
  • To develop guidelines for good clinical practice in diagnostics (with WG1)
  • To establish pathways for rapid interchange of information, skills and practice to shorten time to diagnosis and treatment (with WG7)
  • To develop evidence based clinical guidelines starting with OI and achondroplasia where the outcome may form a structure for generic guidelines for other skeletal dysplasias (with WG2)

Objectives

  • To promote good quality and safe care to patients suffering from Rare Diseases (RD)
  • To involve the industry in development of rare disease diagnostics and therapies.
  • To engage all relevant ePAGs, HCPs, other WGs and other ERNs and relevant professional groups (eg ESPE, ECTS, ICCBH) and regulators (EMA) in order to ensure patient benefit, inclusion and collaboration. Specifically to liaise with patient groups to identify and prioritise the clinical trials needed in relation to unmet need.
  • To map HCPs from European countries with lower access to innovative medicines (e.g. Romania, Macedonia, Albania, Hungary) that don’t have a set up scene to access to phase 2 and 3 trial studies, in order to decentralize access and favour innovation in countries that need it the most.
  • To develop a robust process for interaction with industry.
  • To identify the cohorts of relevant rare bone disorder patients in the HCPs.
  • To develop the basis for the ERN to support investigator-led studies, including an understanding of what the methodological, ethical and legal challenges for clinical trials across multiple Members might comprise, and the difficulties of obtaining funding for such research.
  • To scope existent drugs that can be included in repurposing plans and eligible for orphan drug designation at EMA.

Objectives

To develop a specification for a rare bone disease registry to improves our understanding of the natural history of rare bone diseases, combining all clinical data into the registry of registries; To reinforce research and epidemiological surveillance, through setting up of shared biobanks and registries, To promote research within the ERN.

  1. Develop a scoping questionnaire to collect the current status, barriers and opportunities for a single BOND registry for the BOND white book
  2. Develop the specification for a BOND registry that informs the natural history of rare bone diseases using conditions of osteogenesis imperfecta and achondroplasia as examples of the registry structure.
  3. Develop a specification of high-level questions that can be applied to the vast majority of other rare bone diseases to understand their natural history.
  4. To understand the barriers and opportunities for extending the BOND registry outside of BOND member health care providers.

Objectives

The aim of the Working Group on interactions with other ERNs is to work on overlapping diseases with other ERNs, e.g., with the ERN on Rare Endocrine Conditions (Endo-RARE ERN) on disorders of calcium and phosphate homeostasis including X-linked hypophosphatemia and dyschondrosteosis; with the ERN for Hereditary Metabolic Diseases (MetabERN) on lysosomal diseases; with the Rare Connective Tissue and Musculoskeletal Diseases Network (ReCONNET) on Ehlers Danlos disease; with Crania ERN; with the ERN for Rare Renal Diseases (ERN-RDD) on X-linked hypophosphatemia and with any other ERN that may include diseases that affect bone.

The inter-ERN approach will conceptualize the multidisciplinary vision on patients care by providing a bridge of knowledge and competencies among BOND and other ERNs at all the levels: HC providers, HC professionals and Patient representatives. Also, the aim of the inter-ERN working group is to promote coordinated care and innovative research through the definition of common strategies. Instruments that support cross-ERN diagnosis, follow-up and treatment are vital for patient pathway definition and precision medicine.

  • To identify and fill research gaps,
  • To exchange and disseminate knowledge and best practices,
  • To set up communication tools, and methodologies to develop clinical guidelines and protocols.

A meeting with the 7 ERNs linked by overlapping diseases will lead to finalize the Inter-ERN Diagnosis and Treatment Strategy Plan, which describes the list of overlapping diseases, the actions to be taken in the following Years of ERNs and clear indicators to measure outcomes. In addition, the meeting will lead to initiate the writing of the manuscript guiding clinicians in the area of hypophosphatemic disorders to be carried out with the Endo ERN working group on mineral metabolic disorders.

The Inter- ERN collaboration will lead to propose a set of CROSS-ERN tools for diagnosis, follow-up and management for the individuated overlapping disorders. These tools will, at first step, be designed to support and further develop CPMS functionalities dedicated to Inter-ERN activities.

Objectives

To identify areas and best practices for multi-disciplinary work, To make up of multi-disciplinary healthcare teams, To offer and promote multi-disciplinary advice for complex cases, To encourage and facilitate the development of training and continuous education programmes, To set up communication tools, and methodologies to develop clinical guidelines and protocols.

To make up a model of a multidisciplinary care for children and adults affected by bone rare disease integrated to a large data base . Find and text specific e -Health tools for achondroplasya and OI that will be set an initial phase as concept models diseases.

Objectives

To encourage and facilitate the development of training and continuous education programmes.

  • To increase awareness and knowledge about Rare Bone Diseases among all stakeholders in the care of these diseases, including patients and patients organisations in order to prevent unacceptable diagnostic delays and associated burden of potentially disabling complications, and to ensure the use of best clinical standards of care across Europe.
  • To enhance educational quality and competencies of all stakeholders in the care of patients with Rare Bone Diseases by the identification of needs, of available educational platforms, by the optimal use of existing resources, and by the pursuit of new ones for the use of all stake holders in the area of expertise of BOND-ERN including patients and patients’ organisations.
  • To increase the scale and scientific quality of Education & Training by developing a cross-border accredited very focussed, high quality Educational Programme in Rare Bone Diseases, encompassing evolving knowledge, scientific developments as well as new emerging technologies in the field of communication, in order to bring this very specialized field of knowledge to all stake holders in the management of these disorders.
  • To secure a continuum of Education by continually updating and transmitting state-of-the-art knowledge, including as a priority best clinical practices.
  • To support the shift from Conventional Teaching to Learning by using a user-oriented approach in the development of Educational Programmes for all stakeholders involved in the care of patients with Rare Bone Diseases, including programmes developed with patients for patients.
  • To maximise and spread the benefits of Education and Training across member states.
  • To harmonize the quality of Education and Training in Rare Bone Diseases first among BOND-ERN participating member states and eventually beyond.
  • Valorisation of the Educational programme by developing norms for recognition of competencies in the field. This would also facilitate recognition of new expertise centres by National Bodies, thus increasing the possibility in increasing the number of participating centres of excellence from new countries
  • To build partnerships between institutions by creating clinical exchange programmes.

Priority:

  • To identify potential sources of funding for the development of a fully comprehensive Education and Training Programme for Rare Bone Diseases
  • To identify key partners to WG8 for the development of an overreaching educational programme

All BOND work groups, top world experts, patient representatives & PAGs, scientific societies, pharmaceutical industries, technical/IT experts, experts in data management and stewardship, in bio banking and all other experts involved in the management of patients with rare bone disorders

  • To explore available educational platforms/infrastructure among BOND partners and costs of developing online educational programmes: e-learning modules, webinars, CMEs, video lectures, etc…

For example, the University of Leiden Innovation Centre “e-learning Lab” with capacity to develop

  • Massive Open Online Courses (MOOCs), with possibility of producing YouTube videos
  • Small private online courses (SPOCs)

Objectives

To promote good quality and safe care to patients suffering from Rare Diseases (RD), To empower and involve patients in order to improve the safety and good quality of the care, To involve patients to define new more inclusive clinical pathways and clinical trials, To encourage and facilitate the development of training and continuous education programmes, To exchange and disseminate knowledge and best practices, To set up communication tools, and methodologies to develop clinical guidelines and protocols.

During Year 1, WG9 VISIBILITY TOWARDS PATIENTS AND HCPs coordinated the creation and the dissemination of the results of the ERN BOND White Paper on Diagnosis. The survey provided a picture on the current situation in the 10 Member States in regard to diagnosis and to identify the main challenges and potential solutions that could help reduce diagnosis delays. The evidence emerged from the survey (lack of awareness of OI, lack of information on rare bone diseases among family doctors, paediatricians, nurses and emergency care practitioners, scarce continuity in care services from child/adolescent to adult) drives WG9 to raise awareness, to facilitate care transition and to further assess patients’ conditions in terms of quality of life.

Satisfaction and Quality of Life (QoL) assessment tools will be developed. The tools will be disseminated among HCPs for validation and initial utilization.

The Transition Plan and the QoL assessment will be disseminated among stakeholders (patients, the public and healthcare professionals) through different communication channels (BOND website, Newsletters, social media, training courses delivered by WG8, EC dissemination channels). These activities will aim at creating direct relation/communication line with the OI specialist, link with the local patient groups, engagement in the digital communities.