OIFE at EURORDIS Winter School

EURORDIS launched Winter School with the aim of deepening patient representatives’ understanding of how pre-clinical research translates into real benefits for rare disease patients. The training equips participants with knowledge and skills so they are empowered to effectively participate in discussions with the researchers, policy makers and companies responsible for research or research infrastructures. The 2nd edition of training was planned held from 9-13 March 2020 in Paris. The event was moved to Zoom and Claudia Finis from Germany represented the OIFE. The course covered topics including the history of genetics, diagnostics, new technologies in gene therapy and drug repurposing.


EMA & EURORDIS Summer School

The European Medicines Agency (EMA) was founded in 1995, and since then has worked across the EU and globally to protect public and animal health by assessing medicines and by providing independent, science based information on medicines. In 2000, patient representatives joined for the first time as members of one of EMA’s scientific committees. Today, their representatives take part in most of EMA’s scientific committees as full members, adding their unique perspective and experiences to discussions. They play an increasingly important role in the assessment of the risks and benefits of medicines.

Ute Wallentin and Claudia Finis in Amsterdam

The EMA is one of the central topics you can learn about at EURORDIS summer school. Claudia Finis, a psychologist from Germany, attended EURORDIS summer school on behalf of OIFE in 2019. Read her experience and report here:

“Indeed EURORDIS summer school was a school. We had to do a lot of work. Prior to the actual week of face-to-face training we had to read and work on real and invented articles as well as to do online training. The latter consists of several online training modules and is available online for free for anyone to use. So feel free to try it.

We learned a lot about pharmaceutical trials, medical research and how to assess it. Furthermore, we learned how the responsible people come to their decision whether they authorize a drug or not. One way for patient engagement is to work together with the EMA.

But what is the EMA?
The European Medicines Agency (EMA) is an agency of the European Union (EU) responsible for the scientific evaluation, supervision and safety monitoring of medicines in the EU. The mission of the EMA is to foster scientific excellence in the evaluation and supervision of medicines, for the benefit of public and animal health in the EU.

And why is that important for us?
Because the EMA is responsible for the orphan designation and marketing authorisation. It is responsible for the scientific evaluation of marketing authorisation applications for all orphan medicines in the European Economic Area, as they fall under the mandatory scope of the centralised procedure.

What are orphan drugs?
Orphan drugs are medicinal products intended for diagnosis, prevention or treatment of life-threatening or very serious diseases or disorders that are rare. A disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000 citizens. These drugs are called “orphan” because under normal market conditions the pharmaceutical industry has little interest in developing and marketing products intended for only a small number of patients. Pharmaceutical companies can apply for an orphan drug authorization and when granted they will get several benefits. But it’s a long way from the idea to the available medicine. And the work of the EMA goes even further. After authorization the drug is still monitored for several reasons e.g. side effects or long term reactions.

Reporting adverse effects is important
By the way, every patient is allowed or even encouraged to report about adverse effects to the EMA. This means drugs in off-label use, too. This is important and might lead to consequences such as the withdrawal of a drug if needed.

Where and when should patients contribute?
In order to prove that a new drug is safe and efficacious a lot of research has to be done, valid and meaningful data has to be collected. We as patients can contribute along the way. In fact, researchers can be surprisingly ignorant of what really matters to us. For example, a drug that causes measurable changes anywhere in the body but does not improve the issues that are important to us can be completely uninteresting to us and nobody would take it. That would be a waste of time and money for the pharmaceutical company while disappointing for us. So everyone will benefit from good collaboration. There are many opportunities to participate along the way. This graphic gives a brief impression.

Every orange speech bubble means a chance to get involved. In addition patients can give valuable input at a community advisory board (CAB), which is a group of patients who offer their expertise to several public or private sponsors of clinical research.

Research on children is getting more and more important.
In the past, research was mostly done on adult men. That is why there are far less drugs for children. Many drugs are nevertheless used for children, some as off-label use. With varying degrees of success. Nowadays the EMA tries to test new medicines as far as possible and necessary also for children. This is important because children often react differently. They have a different metabolism, they are still growing and they have different needs. But of course they are not able to participate in a committee. So the Paediatric Committee is probably the only one where not the patients themselves participate but their parents.

Which questions arise when one participates in a committee?
There may be ethical questions and decisions to be made and sometimes the trial has to be modified in order to get valid data. In other cases the research conditions may be so stressful for the participants that a high cancellation rate is to be expected. It looks like sometimes researchers think that it is no problem to attend the trial. But for the family this may mean to drive four times a week many kilometers after school (and work), wait at the hospital for one hour, get treated or examined for ten minutes, drive back all the way but they have to take care to arrive at the hospital before 3 p.m. with a child with special needs. The researchers often don’t take into account that people with a rare disease live far away from the performing university/ hospital and due to their disability they are not able to bare this stress. In addition, the parents may get problems with their employers. No wonder that such trials have a high dropout rate. Here again we can prevent a waste of time and money with our input. What are we willing to do and endure? What is possible, what is not? These researchers have sometimes never seen or talked to a patient with the disease or disability they are researching. They don’t know what it means to live with this disease or disability.

Besides the dry and important work, we also could chat, get to know nice people and do some networking, which of course is also important. And there are these encounters and moments that just delight the heart. I highly recommend the summer school for patient advocates especially for those who are willing to work on a European level.”

Written by Claudia Finis


OIFE at the EMA

On July 9th 2019 the OIFE was represented by our honorary member Taco van Welzenis in a meeting at the European Medicines Agency (EMA). The EMA is an agency of the European Union in charge of the evaluation and supervision of medicinal products. They used to be located in London, but has recently moved to Amsterdam, the Netherlands. Their counterpart in the USA is the The Food and Drug Administration (FDA).

The purpose of the meeting on July 9th was to provide input to EMA’s scientific advice concerning a surrogate endpoint for clinical trials in OI. An endpoint is the primary outcome that is measured in a clinical trial. In clinical trials, a surrogate endpoint is a measure of effect of a specific treatment that may correlate with a real clinical endpoint but does not necessarily have a guaranteed relationship. Taco’s role was to give input from the patient perspective.

Scientific advice at the EMA

So where in the process of developing a new drug does scientific advice take place? Below you can find a description of the different steps in the process behind medicines for human use that are authorised via EMA. The illustration is taken from the brand new EMA booklet “From laboratory to patient: the journey of a centrally authorised medicine”.

Are you interested in patient involvement?

Are you interested in being a patient representative and taking part in meetings in the EMA or in research and development related to OI or other rare bone diseases? Then please contact the OIFE by sending an email to

How are medicines approved by the EMA?

Do you want to learn more about how a new medicine is approved by the European Medicines Agency in a quicker way?
Then you can find out more by watching the video below.



CPMS Platform for European Reference Networks (ERNs)

The Clinical Patient Management System platform aspires to accelerate diagnosis and treatment of rare diseases in the European framework

European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe who aim to tackle complex or rare diseases and conditions. There are 24 ERNs involving 25 European countries and over 300 hospitals covering all major disease groups. Each ERN has access to the CPMS (Clinical Patient Management System) to upload patient cases and to treat various diseases.

The CPMS is an IT Platform for clinical consultations between ERN members. It aims to provide the diagnosis and treatment of rare or low prevalence diseases across national borders of Member States in Europe. The platform allows healthcare professionals to collaborate virtually with one another by forming panels with other clinicians and working together to submit information and comment on findings to gain an insight into different diseases. ERN EURO-NMD uses the CPMS to assist in diagnosing and treating neuromuscular diseases.

The system is supported by a variety of different features such as medical image viewers, a family history pedigree tool and a meeting scheduler. This allows healthcare professionals to collaborate virtually so communication is quicker and more secure. The CPMS regularly undergoes updates to add new medical and administrative features so the majority of applications can be accessed under one platform whilst maintaining a user-friendly environment.

There are different user roles that each healthcare professional can request access to. The most commonly requested is the HP role, which allows a user to enrol patients, participate in panels and access meetings. The CPMS is also a useful source for researchers as they can access anonymised data via a research database on the CPMS.

Patient care and consent is incredibly important and using the CPMS maximises the security of patient data whilst discussing possible treatments, diagnosis and care. In addition to a consensus for care, patients are asked if they consent to de-identified data being included in the ERN database or registry and if they would like to be contacted about research. Consent is a legal requirement in line with GDPR (General Data Protection Regulation) and patients have a right to access data held about them.

Overall, the CPMS will make diagnosis and treatment more efficient since expert clinicians can collaborate virtually on cases. It will be a less stressful experience for the patient as it will mean that there will be no need for them to travel. Since all information is handled on a secure platform, patients can also be reassured that their data is protected.

European Patient Advocacy Groups (ePAGs) have been developed by EURORDIS for each ERN disease group so patient organisations are able to participate in ERN decision making. ePAGS will bring together elected patient representatives and affiliated organisations to ensure that the patient voice can be heard throughout the ERN development process. ePAG patient representatives have an important role of representing the wider patient community in the development of ERNs by participating In Board and sub-clinical committees within their respective ERN. By encouraging patient organisations to participate in decisions it means that the patient voice will always be heard and patients will be represented within their ERN.



The Voice of People with OI

One of OIFE’s goals is to represent our members on an international level and be the voice of people with OI and their families.

One of our representatives is Rebecca T. Skarberg. She is the voice of people with OI in the European Reference Network for Rare Bone Disorders (ERN-BOND), who had their annual technical meeting in Brussels this week. You can read more about ERN-BOND at their newly launched webpage:


Training for Young Patient Advocates

The European Patient Forum is happy to share with you an exciting opportunity for the 3rd edition of the Summer Training for Young Patients Advocates. The theme of 2019 is ‘Shaping the Future of Patient Advocacy’.

Over the course of four days, young people will be expanding their skills and maximize their leadership potential. The dedicated sessions will focus on topics such as representativeness, transparency, ethics and the importance of building trust. Patient advocacy may take different pathways, through individual patient advocates, emerging online patient communities and more formalised entities such as patient organisations. The Summer Training Course will look at how uniquely they can contribute to patient advocacy and do complement each other.

The training will take place on 7-10 July 2019, in Vienna Austria. Deadline for applications is 1st March 2019. EPF offers support of travel costs and accommodation.

For more information about the application process and deadlines:

Testimony from Penny Clapcott (in the front row to the right):

“Last year I was accepted onto a training programme with the European Patient Forum (EPF). Last year’s focus for the training course was based on becoming a better patient advocate and learning key campaign skills to promote your rare disease/health condition.

I applied because I have been on a patient forum for a big research project based in the UK called The RUDY study, which is an online based research project. I am interested in the key concept of ‘nothing about us without us’ campaign as I feel that is vital for OI. At the Brittle Bone Conference I was able to share a little bit about my experience and speak with other health professionals that what we want as patients is very different to what clinical trials aims to improve.

For the EPF course we attend a 5 day course in Vienna, Austria with incredible tutors and access to many other health professionals such as the European Medicine Agency staff member and head of the European Patient Forum CEO. We did a lot of practical work to develop our own campaigns which we then launched after the 5 days training. We were put into teams where we had monthly skype calls to check in with each other, discuss any barriers we’re facing with our campaigns and offer solutions and creative ideas to move forward individually and as a group.

I really felt it improved my confidence and broke what feels like a huge unrealistic end goal into much more manageable goals. My campaign was based on quality of life for people with OI. I want doctors and researchers to listen to us patients that we want to have a good quality of life and that isn’t always about reducing fractures, more often it’s about better pain management and strategies to help prevent and reduce fatigue. Since finishing the summer course I have been invited onto a medical research board as a patient within the Brittle Bone Society and still heavily involved with the RUDY study.

I highly recommend anyone who is interested in patient advocacy to apply for this year’s course. I promise that you’ll meet some great people from all backgrounds and health conditions. It was a great chance to learn from professionals as well as peers in a similar position to you.


OIFE at Mereo

On January 22nd 2019 OIFE was invited to the pharmaceutical company Mereo Biopharma in London to talk about OI from the perspective of people who have OI themselves. OIFE was represented by Honorary Member Taco van Welzenis, who also talked about how the OI-community is organized and what is important for us in research and development. We thank Mereo Biopharma for the invitation and we’re very happy that they are interested to hear the patient’s voices.

You can read more about the event on Mereo Biopharma’s webpage.


The Voice of People with OI

February’s OIFE Magazine main topic is research and I could have called this editorial “The patients’ voice”. But to be honest, I’m not too fond of the term patients. Patients belong in hospitals. The OIFE represents people with OI and families, who most of the time live active and meaningful lives outside hospital walls.

There are however many ongoing initiatives that include patients in one way or another: Patient involvement in research, patient centred outcome measures, patient reported data, patient priorities in research and I could go on and on. Many stakeholders want to hear our voice these days. Both because they are interested, but also to secure funding or to get approval from authorities.

Some studies are putting the patients to work, by using data that patients are providing themselves. Both the RUDY study and Rare Commons are mostly based on patient reported data. And, why not? We are the real experts, right? Yes, but not always. If terminology is not understood before the questions are answered online, results can be imprecise and sometimes completely misleading. The Adult History Study from the US showed for instance, that many don’t know or understand their own type of OI. And using severity doesn’t necessarily help. A person with mild OI who has severe pain, or who has become deaf, might regard his OI as more severe than an otherwise healthy wheelchair user with OI type III.

“By engaging the end users of study results throughout the research process, we are more likely to focus on asking the right questions, study the outcomes that matter most to patients, and produce the useful and relevant results that are more likely to be used in practice.”

Patient-Centred Outcome Research Institute (PCORI)


So why is our voice important? The most known impact of OI is fractures. But there can also be wide-ranging systemic, psychological, emotional and social effects of both the diagnosis and its treatment. Objective tests or examinations might be inadequate to understand the impact of OI on a person’s health, function or quality of life. This can lead to a mismatch between the person’s priorities and perspective and the efforts of clinicians and other stakeholders.

The ‘patient voice’ can contribute in priority setting as well as influencing health policy in a wider perspective. The patient organisations can encourage clinicians and researchers to do more research in OI. And some foundations provide grants, like Care 4 Brittle Bones and Fundacion Ahuce. As an umbrella, OIFE can contribute with advice, because of our overview and big network. We can also create arenas for connecting and getting different stakeholders together.

So what does the voice of the patients say? I’m pretty sure it depends on whom you ask. The father of three years old Marko with OI type III from Croatia, will give you a totally different answer than Olga 54 with type V from Estonia. And Peter with type I who has recently become deaf, will have other priorities than Martha, with a femur fracture that won’t heal.

How do we make sure that the organisations really represent the voice of people with OI? The simple answer is that we have to work together. The OIFE member organizations need to be informed about the new trends regarding patient involvement. Tools must be developed to gather opinions from the community, like focus groups, queries, panels and webinars. We also need to educate patient experts with OI to meet the constantly increasing need for patient voices in research projects, in European Reference Networks (ERNs) and in consultations with health authorities and policy makers on both national and international level.

“Patient involvement in research needs to be taken to the next level. Rare Disease Day 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.” – EURORDIS

Rare Disease Day 2018 took place one month ago and the topic was research. Some of you were perhaps attending national RDD events. OIFE was represented at the European Parliament in Brussels where BOND-ERN’s launched a report on diagnostic challenges in OI. No matter what you did – I hope you had an interesting Rare Disease Day. As you all know – it’s only a warm up to Wishbone Day!


Rare greetings from Ingunn

OIFE president


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