OIFE MAB-meeting on Key4OI & EuRR-Bone

Friday the 19th the Medical Advisory Board (MAB) of OIFE came together for their 2nd meeting in 2020. The topics included Key4OI and the new rare bone registry EuRR-Bone. In addition to the OIFE MAB, we had invited the OIFE EC, our resource group on registries and Tracy Hart from the OI Foundation. In total 18 people took part.

The agenda included:  

  • Status on Key4OI by Dagmar Mekking
  • Information on EuRRBone – Natasha Appelman-Dijkstra
  • Other news from OIFE – Ingunn Westerheim

Standard set of outcome measures

Dagmar Mekking from Care4BrittleBones gave a short introduction about the project Key4OI, which is a standard set of outcome measures for osteogenesis imperfecta. The standard set has been developed through a process involving an international group of experts and focus groups, where children and adults have provided their input from the patient perspective.


Information on EuRR-Bone

Natasha Appelman-Dijkstra, from Leiden University, gave a presentation on the brand new EuRR-Bone registry, while being stuck in traffic. Talk about passion for OI! EuRR-Bone’s aim is to create a high-quality, patient-centered registry for rare bone and mineral conditions including OI in collaboration with the EuRRECa project (European Registries for Rare Endocrine Conditions).

Better treatment & follow up of people with OI

The introductions were followed by questions from the participants and a very constructive discussions which included questions on:

  • How we can develop better guidelines for OI
  • How the patients can help the professionals to provide data
  • How different registries in different countries can work together
  • How patient organizations and other stakeholder can come together to work for more standardized and regular follow-up of people with OI in all age groups

We will follow up the many important questions and comments in further meetings after the summer holidays.

Thank you to all the people who contributed!

What is Key4OI?

Still not sure about what Key4OI is? Watch the video below, made by Care4BrittleBones which explains how Key4OI could be used as a tool to develop more standardized healthcare for people with OI.


Registries in Rome

OIFE’s honorary member Taco van Welzenis recently attended the International Summer School on Rare Disease Registries and FAIRification of Data in Rome, Italy from Sep. 23rd – 27th 2019. It was a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). You can download the agenda of the course here.

The Course was made up of 5 days of residential training organized by Istituto Superiore di Sanità (ISS) in close collaboration with other stakeholders.

Registries are key resources in order to increase timely and accurate diagnosis, improve patients management, tailor treatments, facilitate clinical trials, support healthcare planning and speed up research.

This course was composed of two training modules:

Module 1:
“Rare Disease Registries” where the participants learned
(a) what resources are needed for the establishment / maintenance of a high quality registry
(b) the features of successful strategies to ensure long-time sustainability of the registry, quality, legal and ethical issues in compliance with the EU General Data Protection Regulation and FAIR principles.

Module 2
“FAIRification of data” enabled the participants to work with IT-trainers learn more about the FAIR principles. The potential of a FAIR registry, as the basis for cross resource questions, were demonstrated by executing a query across the use cases that become FAIR. A time slot was allocated to discuss FAIR data management and FAIR project planning.


Can you help us create good registries?

Why do we need registries for OI?

Several new drugs are being investigated for OI at the moment. If some of these end up on the market, it will be important to develop registries to monitor potential side effects and long term effects of these drugs. Registries are also important when it comes to learning about what happens when people with OI get older (natural history). More knowledge can also help us create standardized guidelines and provide better treatment for both children and adults with OI.

Who are working on registries for OI?

Several different stakeholders are working on developing new and coordinating existing registries for OI and rare bone disorders at the moment. The European Reference Network for Rare Bone Disorders (ERN BOND) is one of them. OIFE is helping out by gathering information and giving advice to the different stakeholders.

ERN Bond group photo
ERN-BOND is a European network of hospitals & experts in OI and other rare bone diseases.

We need your help!

ERN BOND has created a survey to provide a picture of the current situation in Europe in regard to registries for OI and other rare bone diseases. The survey is for patients with OI and other rare bone diseases and parents of children with OI and other rare bone diseases. It’s available in the following languages and will be open until September 30th 2019:

The survey will take around 10-15 minutes to fill out and the goal is to uncover what people with OI and other rare bone diseases would want to get out of providing data to a registry and/or joining a research study.

Who can provide input?

To make sure that the survey will be valuable for our advocacy work, we need as many people as possible to answer! People from all countries can provide input as long as you can read and understand one of the nine languages available. Please indicate in the form which country you are from, to make it easier for ERN BOND to interpret the results.

Mereo Biopharma is developing a new drug for OI (setrusumab). If the drug gets on the market, the EMA will probably tell the company to collect data from people with OI to monitor long term effects.

Keeping medicines safe

In order to monitor if a medicine is safe, the European Medicines Agency (EMA) is dependent on input from patients, general practitioners, hospitals, pharma companies as well as knowledge from registries. Learn more in the video below.



OIFE input for EU research

What do you think are the most pressing challenges that EU funded research and innovation should tackle for the rare disease community? The European Commission is preparing the implementation of Horizon Europe, the next EU research and innovation programme (2021-2027) with a budget of €100 billion, in an intensive co-design process. As part of the process, the EU Commission has done an online consultation.

OIFE has provided our feedback and chose to highlight:

  • The need to develop frameworks for rare disease registries & European collaboration on rare disease research
  • More secure funding of the European Reference Networks (ERNs)
  • Develop methods for patient engagement in practise, not only in theory
  • Access to orphan drugs
  • Real access to cross border healthcare

OIFE consulted our Medical Advisory Board before providing our input.



The See, Hear, Smile conference was followed by OIFE’s Annual General Meeting (AGM) from June 15th – 16th in Riga, Latvia. In addition to the business part of the meeting, we also shared good examples between our member organizations. Dr. Eva Åstrøm from Sweden gave an update on ERN BOND and the company Mereo Biopharma gave us a status on the Asteroid trial and presented opportunities and challenges regarding real world evidence and the need for registries.

Translate »