Optimizing Care for Patients with Rare Diseases 

Optimizing Care for Patients with Rare Diseases 


September 16, 2022


Catherine | Associate Director Marketing

Up to 36 million people in the EU live with rare diseases. These include multiple sclerosis, Fabry disease and Huntington’s disease. Many of the 6.000 different and often genetic diseases have not been sufficiently researched and are therefore difficult to cure. For those affected, this means an ongoing high burden because the healthcare system does not meet their needs. Many doctors are not prepared for the treatment of such diseases. Therefore, clinical trials are often the only way for patients with rare diseases to receive treatment.

However, clinical trials for rare diseases are more challenging than those for common diseases. The small number of eligible participants, often complicated by the heterogeneity of patient pools, complicates the design and conduct of a “classic” randomized controlled trial. In addition, due to the smaller number of cases, participants often have to be recruited across different countries, which leads to higher travel costs throughout the study.

A promising approach is therefore to decentralize the study design and make it more efficient with the help of digital tools and a cross-disciplinary approach. We will show you how to improve the study process with interdisciplinary data collection and digital tools and at the same time create new research impulses for the treatment of rare diseases.

What’s it about?

1. Address patient needs in a multidisciplinary way

2. Increase the number of available clinical trials with decentralized study designs

3. Promote drug research with targeted incentives 

4. Facilitate the identification of rare diseases with Big Data

1) Address patient needs in a multidisciplinary way

Rare diseases are often insidious, protracted and difficult to treat. The patient’s need for care from the health system is therefore particularly high. However, patients with rare diseases do not feel sufficiently supported in the fields of psychological counseling, medical education, everyday care and sexuality. More than 80% of those affected have difficulties finding relevant information. In turn, healthcare services often lack the necessary specialized knowledge to adequately assess and treat these diseases.

Better education and acceptance can easily be achieved by changing patient perceptions: Instead of lecturing them, they are consulted as experts on their disease and take on a more active role. This results in more patients willing to participate in the study and giving regular feedback. It is crucial to consult and involve several disciplines in the treatment process from the time of diagnosis at the latest. In addition to telemedical offers, the exchange of information among patients, as well as extensive education, can take place via informal networks or social media and databases.

2) Increase the number of available clinical trials with decentralized study designs 

There are still too few clinical trials for patients with rare diseases, as they are often conducted across countries as a consequence of the small number of cases. On the one hand, this is made even more difficult by the different and unaligned national regulations. On the other hand, such studies are not very lucrative for many drug manufacturers and research institutions because of the difficult logistics involved in setting up studies at different locations.

Multidisciplinary initiatives and harmonized regulations can greatly simplify the set-up and willingness to participate. Efficient data capture with the help of digital tools (EDC) as well as telemedical support for patients ensure that the studies can be carried out in a decentralized way. Long travel times or in-person visits can thus be greatly minimized, which lowers hurdles and increases the overall willingness to participate. The optimized electronic data communication, in turn, makes it possible to harmonize regulations, which simplifies interdisciplinary access and thus the overall study process.

3) Promote drug research with targeted incentives

The low prevalence of rare diseases means that the time-consuming international coordination and insufficient information available to the medical profession enable making diagnoses too late – in the UK it can take up to six years. The fact that the number of suitable treatments and drugs remains manageable and research tends to focus on more widespread diseases is also a consequence of this problem.

Therefore, some countries have already started to specifically facilitate and incentivise the development of suitable medicines. These can include market exclusivity for up to 10 years, tax credits and fee reductions, accelerated marketing procedures and scientific and technical support. The targeted repurposing of already established active ingredients and medicines can also produce promising drug candidates in the course of studies. If approval is accelerated accordingly, these can significantly improve the chances of treating rare diseases.

4) Facilitate the identification of rare diseases with Big Data

Once the number of studies and participants has been increased and improved through the measures mentioned above, Big Data approaches offer significant potential to identify rare diseases more quickly and increase their visibility. This means that careful data entry into electronic health and social care systems is essential. Under these conditions, Big Data can be a powerful tool to improve the applicability of clinical trials in real-world scenarios where population heterogeneity is a barrier. However, this is not an option for all rare diseases: If the number of cases remains too small, appropriate large-scale data capture is not possible. 

Conclusion: Multidisciplinary collaboration and digital tools increase number and chances of clinical trials success in rare diseases

Decentralized clinical trials (DCTs) offer great potential to improve the chances of treatment for rare diseases. However, access and willingness to participate have to be improved for those affected. This can be achieved with innovative study designs, the use of digital tools and telemedicine. At the same time, legislators should promote research in a more targeted manner and strive for international harmonization of approval regulations for drugs and studies. Here, the key is multicenter cooperation between all stakeholders. This includes partnerships with patient organizations and training a new generation of researchers interested in rare diseases. 

Want to leave nothing up to chance in your next clinical trial for rare diseases? Reach out to us or schedule a free software demo! We look forward to helping you digitalize your clinical data capture.

Catherine | Associate Director Marketing

Catherine | Associate Director Marketing


Passionate about creating innovative event and content marketing formats to make the benefits of digital health solutions more tangible. Enjoys fine art, photography, foreign languages and all things digital.

Envelope Icon

Stay up to date on our insights & events!