On the occasion of Rare Disease Day (February 28th) the European Reference Network for Rare Bone Disorders (ERN-BOND) organized a European Parliamentary Meeting called: European Reference Networks – Accelerating and Improving Diagnosis for Rare Diseases Patients. The meeting was kindly hosted by MEP Elena Gentile (S&D, IT) with support from EURORDIS. The OIFE was represented at the event by Belgian OIFE-delegate Filip De Gruytere as well as Dagmar Mekking from supporting member Care 4 Brittle Bones.

The aim of the event was to present the findings of the ERN-BOND White Paper on Diagnosis and discuss solutions on how to best reduce the average time to accurate diagnosis for rare bone diseases. The event also marked the first successful year of the 24 ERNs now operating across Europe.

Dr. Vytenis Andriukaitis – European Commissioner for Health and Food Safety, was one of the invited speakers. He expressed gratitude to the work that the work ERNs are doing and highlighted three challenges for the future of the ERN:

  1. to ensure the integration of ERNs into national or regional healthcare systems
  2. to ensure full support to the ERNs
  3. the selection and integration of new members in the 24 current ERNs

Which countries are included in ERN-BOND?

Countries currently represented in ERN BOND are Belgium, Czech Republic, Estonia, France, Germany, Italy, Netherlands, Portugal, Sweden and UK. We share a common goal with OIFE that OI-organizations in countries included in BOND should be in touch with the involved healthcare providers in ERN-BOND.

Regarding your question on including new healthcare providers from more countries – this is a question for health authorities in the member states.

UK has many healthcare providers in ERN-BOND Are you worried about Brexit?

Yes, as one of the ERN Coordinators, we’ve sent a letter to The Directorate-General for Health and Food Safety affirming it’d be a relevant loss if health care providers (HCP) from UK couldn’t be part of ERN BOND. A statement from the coordinators of the 24 ERNs can be downloaded here: https://bit.ly/2Gv1iRH

What are the most important activities in BOND the coming year?

Our most important activities include:

  • Increasing the number of patients consulted through the Clinical Patient Management System (CPMS) and to assess strengths and weaknesses of the system;
  • To produce draft guidelines for Osteogenesis Imperfecta (as our pilot diagnosis)
  • To organize an international consensus meeting introducing the proposed guidelines for OI to start the process of pathway harmonization;
  • To map the research activities and expertise within BOND partners through a survey, to facilitate collaborations opportunities for European funding
  • To start a discussion with private companies and try to start a clinical trial in 2019, in line with the policies delivered by the Board of ERN Coordinators and European Commission.
  • To develop a specification for a rare bone disease registry to improve our understanding of the natural history of rare bone diseases, combining all clinical data into the registry of registries
  • To organize a face-to-face meeting with ERN Coordinators to start a platform between different ERNs (inter-ERN), starting with the diagnose of hyperphosphatemia.

What is the CMPS?

On 20th November 2017, the Clinical Patient Management System (CPMS) was released. A pilot phase lasted until end of February 2018. CMPS is a secure web-based application to support ERNs in the diagnosis and treatment of rare or low prevalence complex diseases or conditions across national borders. The data model running onto the CPMS conforms with European standards, nomenclatures and strategies to share health data syntactically and semantically in the Health sector.


How do we make sure that all relevant stakeholders are involved in ERN-BOND?

The ePAGs (patient advocacy representatives) have a relevant role, since they are involved in all the working groups of BOND. Our network is planning to participate in the following events related to patient involvement – World Health Day, Rare Disease Day, Osteogenesis Imperfecta Awareness Week – May and Dwarfism (Achondroplasia) Awareness Month.

Do you have a message to the readers of OIFE Magazine?

The central role of patients and their families in contributing to BOND activities is not only a statement. We believe that the active participation of OIFE was precious for the first year of BOND and shall increase in the next years.

A concrete contribution for the coming year could be the collaboration for the development of studies on quality of life and the definition of outcomes for therapies, with real and clear impact for the patients.