Meeting the partners — Sant Joan de Déu Research Foundation
“Starting in 2015, we have a dedicated department to include patients and caregivers in research projects”, explains Begonya Nafria, the hospital’s Patient Engagement in Research Coordinator. “This area is fully devoted to ensure the patient’s voice is actively incorporated. We aim to improve the health and quality of life of children and young people living with a disease. One of these projects is Share4Rare”. Begonya coordinates this project along with her team. “This project builds on the expertise generated on the Rare Commons platform, which underlined the importance and value of rare disease data analysis. Next to conducting meaningful research, it is paramount to involve patients on a global level”.
A big challenge faced by rare disease patients is the one related to the need of new treatments. In this scenario, and for finding an intervention that works, it is essential to have a strong description of the natural history of the rare condition under study. “We have to understand the cause and course of the disease when no therapeutic option is available. This information is essential to analyse possible new treatments”.
"At the moment, only 10 % of rare diseases have a solid knowledge base” — Begonya Nafria
“Another rare disease challenge is the need for unified patient-powered registries. Some diseases do not have a registry but these are essential to foster research and they are a powerful tool to engage patients and avoid the duplication of efforts”.
Begonya concludes that saving time and resources are key elements to advance research. “Share4Rare aims to overcome these challenges. We are willing to foster research at an international level to ensure meaningful number of patients joining the research projects. Most of the projects seek to gain a better understanding of the natural history of the condition. Others are based on collecting clinical information and data from patients and families to get a 360-degree perspective of what is important. Next to this, Share4Rare is building international data bases that can be connected with patient registries. The platform uses a digital re-consent process that enables the re-use of data for future research initiatives”.
Share4Rare connects with patient organisations and research institutions in their efforts. “There are three profiles in the platform: patients, caregivers and patient organisations. The latter can have a private conversation with registered patients linked to the condition they represent. A research institution can initiate a research project based on platform input".
"We are currently working on a call for projects aimed towards patient organisations and research institutions, to develop a research project on Share4Rare” — Begonya Nafria
Begonya and her team are dedicated to pursuing the benefit of the patient. “Share4Rare is a project designed with the patients, and we want to keep this model working beyond the granted period by the European Commission. Our institution is devoted to deliver research projects to answer questions that matter to all patients and families.
"We might not be able to deliver a cure, but we can surely improve quality of life by working side by side with patients” — Begonya Nafria
An unexpected insight from the project was the overlap of some rare diseases with more prevalent conditions that share the same symptoms or treatments.
The success of Share4Rare is connected to the analysis of the outcomes of projects that are ongoing in the platform, Begonya explains. “We chose projects and research hypothesis carefully, aiming to cover unmet needs. We will publish the results in open journals, making them available to the community, and specifically to the patients who participated in collecting the information. We will consider this project is a success when new research initiatives are started beyond the current ones in the platform. So, if you are a patient organisation and want to perform research that matters to your patients, do not hesitate to contact us!”
