Rare Disease Tracking App: "Citizens do Research with Us!"

In Europe, a disease is considered rare if it affects no more than 5 in 10,000 people. On the way to diagnosis, affected people often experience a doctor’s “odyssey”, since specialists and specialized facilities for these diseases are also rare. With about 8000 different rare diseases and about 4 million people affected in Germany, the findings of science are more difficult to access. The SelEe – Rare Diseases – project aims to remedy this situation and increase visibility for these diseases. An app has just been created(Android and iOS) and is intended to bring together a wide variety of data. We spoke to project leader Prof. Dr. Jörg Scheidt about this.

Prof. Dr. Jörg Scheidt researches rare diseases and involves those affected
; Image: Hof University of Applied Sciences;

A new milestone has been reached in the SelEe project, a new app. Before we talk about the app, I would first like to know: What is the SelEe project about?

“SelEe wants to gain new knowledge in the field of rare diseases. Very important: We involve citizens directly, i.e. they research with us. Because it is often the case that people affected by rare diseases are very well informed, sometimes even better than their family doctor. And that is why their knowledge is very important for us. Overall, knowledge about rare diseases is very heterogeneous, and this is where we want to create clarity.”

So who exactly is the app aimed at?

“The app is aimed at sufferers, their relatives and also quite deliberately at self-help groups; we rely heavily on the latter in particular. These participants are very motivated. To ensure that it is also suitable for them, the so-called “core research team” has been involved from the very beginning. It consists of ten people from self-help groups. Most of them are women who are leaders of the group and some of whom have a great deal of specialist expertise, e.g. they are doctors themselves. But there are also mothers of affected children.”

What kind of data is collected with the app?

“First of all, the app is designed to store calendar-like health data. You can enter your data on a regular daily basis or just monthly. Since there are so many different diseases, it was actually difficult to create the app. We then came up with the idea of designing it as freely as possible, i.e. in a kind of modular system. In this way, diseases with the most diverse characteristics can be entered, because the system is not rigid.

So you can enter seizure data, weight, blood pressure, pulse or even sleep quality, the patients configure that entirely as needed and thus also make the decision, what exactly is important for their disease.”
Prof. Dr. Jörg Scheidt

And that’s where the self-help groups come into play again: they can help if you don’t yet know exactly what you need to pay attention to and what data is important. We can also provide templates from the self-help groups in the app. Technically, there’s support from us if you want it: we have explanatory videos on the website and in the app, or we can also provide individual support via video conference.”

How secure is the data stored?

“Of course, the information entered is very sensitive data, so the highest value is placed on data protection and data security. To this end, the collection of personal data such as name, address and exact date of birth is largely dispensed with. In addition, all data transmissions are encrypted. To evaluate the data, it is completely anonymized.”

If you sum it up again briefly, what do patients get out of the app?

“The most important thing: With regular entries, one has an individual evaluation of one’s data, which can also be shared and printed as a pdf document. One can also download the data as a csv file for further processing in Excel. Most of the data is voluntary anyway.

Diseases currently treated in this process include:

Lennox-Gastaut syndrome
Vasculitis
Neurofibromatosis
Sarcoidosis
Granulomatosis with polyangiitis (GPA)
Hypopituitarism
Aplastic anemia (AA)
Arrhythmogenic diseases
ion channel diseases (Brugada syndrome, CPVT, long-QT syndrome,
Short-QT syndrome)
Arrhythmogenic cardiomyopathy (ARVC/ACM)

Since the app is still very new, we have only a few patients in the system so far. Currently there are 30 and our goal would be around a hundred. Even if that doesn’t sound like much, we are confident, because we already started small in another project, the German Headache and Migraine Registry, and now have 8,000 participants. In the near future, we will focus on promoting the app and collecting more data. And then comes the evaluation of the whole group, from which the doctors hope to gain a lot of new insights.”

From which funding line is the project funded? In what larger funding context does it fit?

“The project is funded by the German Federal Ministry of Education and Research (BMBF). This new funding line, with 15 projects, starts exactly in such a way that citizens are involved in research. Research is not a one-way street; it is about a close exchange between classical science and the new citizen research. This is known as “citizen science,” and the BMBF sees great potential for innovation here. The central platform is called www.buergerschaffenwissen.de, and here you can find all the funded projects as well as many others in the field of citizen science.”

What actually is accompanying research and what are its tasks in the project?

“As different as all the projects are, they all have one goal: to involve citizens. To ensure that this stands up to a strict quality standard, all 15 projects are evaluated by the so-called accompanying research. We present our projects at joint congresses, for example, and exchange ideas in workshops. In doing so, the accompanying research checks whether we are really close to the people, i.e. how high the degree of participation is. Do you just collect data or do citizens really determine the research questions? We also have to defend ourselves against voices that say that citizen research is not real research at all. I see it differently and think that this is interdisciplinarity in action.”

What happens after the project ends?

“The project will definitely continue and we will try to find follow-up funding. After all, submitting applications is core business for us, from which we finance our projects.”

Thank you very much for the interview!