For patients and families

The content of this section has been created by the rare disease patient representatives engaged in the RD-Connect work.

Patient representatives have a lot of knowledge about rare diseases. RD-connect uses this experience to help guide the research process. Rare disease researchers understand how important it is to reach better health outcomes, which improve with new approaches and creative thinking. Trusted and ethical practices are vital as well.

Joseph Irwin, a member of PAC and a father of a child with a rare disease, explains his views on RD-Connect and data sharing.

Input of patient representatives into RD-Connect activities is managed by EURORDIS through the Patient Advisory Council (PAC) and Rare Disease Patient and Ethics Council (RD-PEC). PAC and RD-PEC provide guidance on the project’s direction, particularly in ethically challenging areas relating to data sharing, where risk and benefit must be carefully evaluated.

Members of the PAC engage with each of the RD-Connect technical work packages, which lets the technical experts get direct input from the PAC and strengthens the involvement of the PAC members, and improves dissemination of the project’s work to the wider rare disease patient community.

Wish to know more? Read our Introduction from the coordinator to learn more about why data sharing is crucial for improving the lives of rare disease patients.

For an overview on how RD-Connect addresses the rare disease challenge, read the article about RD-Connect published by the Rare Revolution Magazine.

You can also watch the EURORDIS webinar explaining what RD-Connect is, how it works and how it benefits patients with rare diseses. Watch the webinar!

The articles below were written by the members of the Patient Advisory Council and concern topics that they find important for patient engagement and advancement of rare disease research. The articles were first published in April 2017 in the Issue 29 of the RD-Connect newsletter.

Interview with Christophe Béroud, the leader of RD-Connect work on clinical bioinformatics

Prof. Christophe Béroud leads the centre for molecular diagnosis of Congenital Muscular Dystrophies (MDC1A) and a bioinformatics team at the Aix-Marseille University Medical School.
RD-connect is a European project that aims to reinforce collaborations in the rare disease field, not only in Europe but also at a worldwide level. It is funded by the EU in the context of the IRDiRC international project, which aims to discover most genes responsible for rare genetic diseases and 200 new therapies for rare diseases by 2020. RD-Connect is the bioinformatics arm of this worldwide initiative that will provide a unique platform and sophisticated tools to share data and extract knowledge from these data.
RD-Connect is needed because such diseases are often very rare and only few individuals are studied in each centre. To reach a sufficient number of individuals to set-up efficient analysis, sharing is a pre-requisite, this will be facilitated by the RD-connect platform.
I am the leader of the Clinical Bioinformatics work package. With my team, we create new software to extract knowledge from data especially in the context of NGS to detect the pathogenic mutations (1/2 per individual) among the data deluge (4 millions of mutations per individual). I am full professor of human genetics at the Aix Marseille University in France. I am Doctor in Pharmacy, have a PhD in human genetics and is responsible of the “Genetics & Bioinformatics” research team at INSERM UMR_S910.
As a pharmacist, I have always been in contact with drugs to cure patients. I was among the first pharmacists to move to the genetics field because I believed it was a key field for many diseases and, as a basic science, could lead to many different spaces (immunology, cancers, rare diseases …). I started in oncogenetics (von Hippel Lindau diseases and kidney cancers) and naturally moved to the rare disease field as most Mendelian genetic diseases are rare.

I am a self-made bioinformatician as I discovered the first computers with friends during my first years at university. I found that my skills as a chess player were a strength to create algorithms. I therefore started to create software to facilitate my day-to-day job as a hospital pharmacist. I discovered that genetics were generating more and more data and that databases and tools were required to efficiently store those data and extract knowledge from them. I created the UMD system that rapidly became an international reference. Since then I created many other databases and tools and became leader of a reference bioinformatics team.

Patients and patient representatives should be interested in bioinformatics because it allows to move in a new dimension. Imagine that with the best expert, you can read and analyse genomic sequences at a rate of few thousands per day. With bioinformatics, you can do billions per day! In addition, you can easily enrich each information with data from multiple sources in a wink. If you imagine drug development, you can use the power of bioinformatics to create models, feasibility studies and patients recruitment. Without bioinformatics, it will be almost impossible to move to the personalized medicine world.

Even if you create the best software or database, it could rapidly turn useless if you do not have access to data. Patients own their data, which are key to build databases etc. Clinicians and geneticists also have access to complementary data about patients. This information can only be used if patients give their consent. Patients organizations are key actors to explain to the public what are the purposes of the research projects and why they should give their consent to feed the bioinformatics databases with key data.

Developing a European Reference Network from the perspective of a European Patient Advocacy Group representative

Interview with Daniel Renault

Daniel Renault is actively engaged in French and European associations for patients affected by Renal Genetic Diseases. Within RD-Connect, he is involved in patient engagement and ethics. In this interview, he talks about developing the European Rare Kidney Disease Reference Network (ERKNet) from the perspective of a European Patient Advocacy Group (ePAG) representative.
With the same goal of improving health of European patients, Cross-border healthcare and ERN are different but neither in opposition nor in competition, on the contrary they will soon appear complementary. First the ERN approach focuses only on rare diseases while the directive concerns all diseases. Second the practice is different: it is no longer the patient who moves as in the directive but the expertise that transfers, diffuses to reach those who need it: the health professionals at the local level in the expertise centres and the patients.

The approach of the ERNs, has been widely discussed since 2012 in a multi-stakeholder committee (EUCERD) where patients were represented. I would like to take this opportunity to recall the decisive influence of the patients in the process through EURORDIS.

ERNs are aiming at “quality of healthcare pathways for all” within the EU. This is about solidarity, “for all” and efficiency, improvement of quality. We are thus dealing with a double process: on the one hand to extend and on the other hand to improve healthcare pathways; and the two feed on each other.

It is clear that those who will benefit most from the ERNs are those who do not currently have access to a highly specialised quality and / or well-defined healthcare pathways. It is a matter of solidarity on a European scale.

But the project is useful for all patients in Europe. First, it will improve knowledge of what constitutes a quality healthcare pathway, by better integrating the voice of patients. It is known that the quality of life of patients with renal insufficiency is critical to the balance of their lives and their development when they are young. Beyond the potential development of innovative techniques to treat or delay the degradation of renal function, there are aspects such as access to treatment for renal insufficiency (dialysis, transplant) that are critical in the care and health. They are at the heart of ERKNet.

It will also bring about a strong integration between research, clinical, genetics, and the treatments of new generations. By better linking patients and expertise among themselves, the conditions for the emergence of an effective infrastructure are created, enabling research to build on critical masses of patients with standardized clinical information and biobanks of sufficient size.

The role of patient organizations was recognized from the outset as a determinant for ERNs. These ERNs are dealing with “healthcare pathways for patients,” it is logical that the latter have a say. ERKNet has made and will give patients plenty of room for its project and its implementation.

In the field of kidney rare diseases, we were fortunate to have already a single organisation (FEDERG federation) that covers the entire domain of ERKNet. For some other networks, integration is less easy due to a high number of associations that have no experience of working together. This advantage has enabled us, as early as 2015, to be proactive in bringing together all the European associations in the rare renal domain without waiting for the Commission’s directives.

FEDERG, on behalf of the patients, thus contributed to the development of the ERKNet project with the nephrologists. In the implementation of the project, our involvement will focus in particular on the characterization of the pathways, the transition protocols (child-adolescent-adult), the aspects followed of the impacts in countries with the patients, the ethical aspects, the development of patient capacities in safety and quality of care studies and development of research infrastructure (registries, biobanks). And of course our role will be to consistently ensure a strong and reactive link between the patients in the field and the management structure of the network.

We are therefore involved from the start on the ERKNet project, first as FEDERG and then more formally from the angle of the E-Pag. The E-Pag is the European Patient Advocacy Groups, which formalizes patient participation in the network process. Elections of patient representatives in ERKNet took place in spring 2016: Claudia Sproedt and I were elected representatives (respectively vice president and president of FEDERG).

It is a great satisfaction because, beyond the strengths of the project I have just presented, ERKNet is the perfect example of the justification for the approach that we initiated 6 years ago when we create a European federation. There were as usual sceptical people but the promoters of the federation were bidding on the idea that healthcare policy for rare disease will increasingly be at European Level.

I have to say that FEDERG is active in many other fields (research projects, forum, establishment of good practice guides, participation in EURORDIS (Rare Diseases Europe) and RDI (Rare Diseases International). ERN is today and for years to come a central activity for us.

Two elements were critical for ERKNet, first the existence of a long tradition of research projects at European level, EURenOmics coordinated by Franz Schaefer, being one of the latest projects. last. Researchers, clinicians, geneticists and patients have the experience of working together. Then, at the patient level, the existence and legitimacy of FEDERG enabled us to be immediately operational to organize the involvement of patients in the drafting of the project.

It was necessary to go fast because the texts of the call for projects were issued at the end of 2015 and it was necessary to propose a project in June 2016.

Another critical element is that the implementation of the ERNs is not associated with any specific funding measure. The activities will have to be financed by the Member States. This absence must be seen as a guarantee of the sincerity of the institutes involved, the motivation for participation is not financial but aims to genuinely contribute to an integrated European project.

Everything is to be built! The project is approved; the participating institutes have been validated. Everything remains to be done, 2017 should be a year of implementation: organization, contents, processes, many things to be specified by the partners. There is also provision for phasing in the implementation.

At FEDERG and ePAG level, we have organized the first E-PAG meeting of associations the 5th March 2017 in Amsterdam. 28 representatives gathered. And now we are ready to have patients participating to almost each thematic subgroup and task force of ERKNet. We are heading towards the official launching of ERKNet planned 23 and 24 May 2017 in Heidelberg.

Visual awareness in rare diseases

by Sigurður Hólmar Jóhannesson, AHC Federation of Europe

Sigurður Hólmar Jóhannesson is the founder of Alternating Hemiplegia of Childhood (AHC) associations of Iceland, and Europe, and is a member of the RD-Connect Patient Advisory Council.
In today´s world, visual awareness is the most powerful way for anyone to get a message across weather it be to the public or to professionals. It can be extremely difficult to explain the rare disease you or your loved one is experiencing so that it is completely understood by the receiver but a short video says more than a thousand words.

If you want to grab the attention of a large number of people don´t make the video too long. In 2015 the average length watched of a single on-line video was 2 minutes 42 seconds.

Surveys indicate that 60-second video´s are the best for maximum viewers.

If also helps to send the video to online press and internet celebrities.

Eurordis has a channel that has a wide array of short films and you can send your video to the channel.

The AHC association of Iceland produced a few short films about Alternating Hemiplegia of Childhood (AHC) AHC is a rare neurological disorder that is extremely complicated and difficult to explain in words.

The short films helped people all over the world to get a correct diagnosis and to explain the disease to friends and relatives. This inspired the association to create a full documentary about AHC called Human Timebombs.

The documentary not only helps families that live with this devastating disorder but also helps to raise awareness, raise funds and is used for educational purposes for healthcare professionals and teaching hospitals in Europe and in the USA.

As it was difficult to get all the 70 interviews into the documentary a special website was created so that all the information could be stored in one place because information on rare diseases are extremely valuable to families as well as professionals.

The AHC Association of Iceland gets emails every week with stories explaining how the documentary has helped families all over the world and receiving such news is always heartwarming.

Creating a video has never been easier almost to the point that anyone can create a video. The only limit to the creativity is your imagination. Professional video´s are the best but sometimes raw material can be very powerful if the emotions can capture the audience.

Rare diseases that are difficult to explain are perfect for visual awareness.

Crash Course in Patient-Researcher Communication

by Veronica Popa, a mother of a child with Allan-Herndon-Dudley syndrome and a member of the RD-Connect Patient Advisory Council.


“The smallest piece of knowledge about rare diseases might be the grain of rice able to tip the scale in favor of us all.”

Communication is simple in theory but way more complicated in reality. In a verbal communication, a simple schematic would be: sender, encoder, channel, noise, message, decoder and receiver.

The Sender:
I’m a mother of a rare disease patient and I have studied and applied marketing and communication for a lot of years. Why is this relevant to this article? Because information is only as valuable as the source is qualified to express it. You wouldn’t take medical advice from a lawyer, would you?

The Encoder/Decoder:
When considering verbal communication, the encoder is the language we speak. The best communication results come when the decoder uses the same code as the encoder. It’s obvious that if you are speaking English and the other person is trying to decode your message in French, the message will be lost.

Less obvious but just as damaging for the message are situations in which the two, sender and receiver, are using slightly different codes. If the sender encodes his message in technical English, for example, while the receiver decodes it in plain English a big part of the message will be lost or miss interpreted (like the English-Romanian version). It’s like being on the right wavelength (AM/FM) but the wrong frequency (101,2kHz rather than 101,4kHz).

The Channel
If you are having a face to face conversation then the channel is the voice. Sometimes, the channel may have a vital role in delivering the right message. The more sensitive the message the more direct the channel should be.

The Noise
Noise is the thing that usually gets the message scrambled so that it may end up meaning a totally different thing at the other end. It might have to do with cultural differences, semantic of the words used etc. An example of cultural difference would be interpersonal distance. Interpersonal distance is different from culture to culture. From Northern to Southern Europe, the distance decreases abruptly. Staying too far or too close to a person may make the person receiving the message uncomfortable and that interpretation may leak into the meaning of the conversation.

The Message
Transforming complicated concepts into bite size information that the patients may understand and absorb should be a key point in developing a message. Some ideas to reach that goal might include:

  1. Use visual metaphors in order to create a visual memory of that information
  2. Make analogies to familiar concepts for the receiver
  3. Be concise
  4. Keep in mind the other’s point of view.

The Receiver:
In patient-researcher communication, the different perspectives of the two (Sender and Receiver) may account for a big chunk of the misunderstandings. For the researchers, the subject in discussion is related to their work so it’s professional. For the patient, the same subject is deeply personal due to the fact that it affects directly their lives. The solution would be a middle ground where both sides would feel comfortable sharing ideas. It might require a bit of empathy from the researcher and a bit of detachment from the patient and a lot of good will from both.

Communication is a very complex process. Verbal communication is only a small part of the way we communicate and is not even the most efficient. Research shows for example that our brains are wired to interpret body language first and to compare that message with the one received verbally. While body language may differ from culture to culture, the approval/disapproval body language is universal.
People might show signs of mistrust, even without understanding why, when the two kinds of communication don’t harmonize. For example, if someone says “We are extremely enthusiastic about this new treatment” while their arms are crossed across their chest, your brain will tell you to temper your enthusiasm since what he is saying might not be the full story.

Arms crossed across the chest represents a defensive gesture but is done unconsciously and the brain trusts it better over the conscious messages which are the verbal ones.

Communication is never a one way street. Both sides should listen as well as try to convey their message. It is also good, in cases where complex concepts are being communicated, to ask questions in order to assess the efficacy of the communication strategy used.

“Research is vital for rare diseases”. This is not a metaphor; this expression is as pragmatic as they come. It is a mantra that every patient or parent or a rare disease child starts absorbing in from the first second they find out their diagnosis. Understanding this makes them all willing to help and do their part to further this process. Sometimes though, bad communication gets in the way and walls are being built instead of trust. If we could rise above our fears, mistrust and personal agendas; if we could build bridges instead of walls, we could aim higher, way…way higher.

Each of us, patients or researchers, holds a piece of the puzzle. We won’t be able to see the whole image unless we work together and give each other a chance to share even the smallest piece of knowledge that might prove to be the grain of rice that will tip the scale in the favor of us all, researchers and patients alike.

Reactions to the Report from the EMA Workshop on Patients Registries

In 2014, the European Medicines Agency (EMA) commenced a Registry Initiative aiming to optimise the use of registries in supporting medicines authorisations. Engagement between marketing authorisation applicants and registry holders requires establishing a strategy and a supporting task force. An undertaken pilot phase aimed to identify the barriers and enablers and to develop recommendations to optimise the use of registries in marketing authorisation. The perspectives of multiple stakeholders including registry holders, patients, the pharmaceutical industry, health technology assessment representatives and regulators were then explored in the EMA Registries Workshop held on the 28th October 2016. Participants described the challenges and barriers to collaboration, and made recommendations to address them and to develop the next steps of the EMA Registry initiative.

The report from the workshop sets out participants’ observations and recommendations in five theme areas: benefits of patient registries and obstacles to be overcome, benefits and challenges of collaborations, technical considerations, governance, and sustainability.

Members of the RD-Connect Patient Advisory Council have followed the EMA patient registry pilot project during the last two years.

Patient organisations are very interested in the final outcome in the use of registries specifically for regulatory approval, and whether new applicants will implement disease based registries instead of product registries.

As patient representatives, we have often stressed the importance of integrating patient perspectives in the regulatory approval process – not only the patient preferences but also what is clinically important for us, through the various Clinical Trial mechanisms like primary endpoints etc. With the new concept of these registries we could take a step further towards the collection of Real World Evidence about what works, by how much it works and for whom it works best.

So it becomes essential for all of us to develop the proper robust governance to safeguard transparency, accessibility of data and independence of registries.

Disease registries and post-authorization pharmacovigilance

EMA requires pharmaceutical laboratories to monitor, using product registries, the safety of their medicinal products after market authorization to track large-scale adverse events that could have gone undetected through clinical trials. However, more and more pathologies are endowed with an epidemiological patient registry whose aims include a better understanding of the natural history of the disease and the clinical characteristics of the population.

Within its Registry Initiative, EMA wants to encourage Pharma companies to switch from using Product registries to Patient registries in their pharmacovigilance studies. With this in mind, EMA invited stakeholders to feedback on the report summarising the observations and recommendations arising from the Registries Workshop This is a tremendous opportunity to improve quality of disease registries while helping to evaluate new drugs, so important in rare diseases.

Registries represent an invaluable source of data especially in the field of rare diseases as they can for example help assess the feasibility of a study by evaluating the number of patients eligible for a clinical trial.

Registries-Pharma partnerships could provide funding to registry managers for a given period of time. These should be considered as a bonus, an extra ad-hoc support to help improve the quality of registries and facilitate compliance with good clinical practices, rather than being the main funding provider. Setting up a drug registry requires the pharmaceutical laboratory to respect these good clinical practices, it is therefore likely that the EMA will also impose it on patient registries.

New ways for Patient Organisations to Contribute to Drug Evaluation

In 2011, the importance of the role of associations in the health system was reaffirmed by the French national Agency for drug safety. The law reinforces transparency and puts the patient at the heart of the process that ensures his/her safety. Approved patient organisations can report suspected adverse reactions. They can put a request to the Agency recommending the temporary use of a medicinal product before its marketing authorization when clinical trials showed a significant efficacy and no or limited adverse events. This is particularly important in the field of rare diseases where few drugs are available. Some patient organisations are members of the board of directors and of the three advisory committees. A specific Agency committee provides an ongoing dialogue on cross-cutting issues with patient and user organizations.

The Agency also encourages through annual calls for projects, competitive and independent associative initiatives aimed at promoting the good use of medicines.

In 2016, the French Health Authority implemented a tool allowing patient organisations to give their opinion on a medicinal product before its market authorization.

See also, this short song/animation encouraging patients to report adverse side effects due to medication after marketing authorisation.

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