Global Collaborative Social Network (Share4Rare) to Promote Citizen Science in Rare Disease Research: Platform Development Study

Abstract

Background Rare disease communities are spread around the globe and segmented by their condition. Little research has been performed on the majority of rare diseases. Most patients who are affected by a rare disease have no research on their condition because of a lack of knowledge due to absence of common groups in the research community. Objective We aimed to develop a safe and secure community of rare disease patients, without geographic or language barriers, to promote research. Methods Cocreation design methodology was applied to build Share4Rare, with consultation and input through workshops from a variety of stakeholders (patients, caregivers, clinicians, and researchers). Results The workshops allowed us to develop a layered version of the platform based on educating patients and caregivers with publicly accessible information, a secure community for the patients and caregivers, and a research section with the purpose of collecting patient information for analysis, which was the core and final value of the platform. Conclusions Rare disease research requires global collaboration in which patients and caregivers have key roles. Collective intelligence methods implemented in digital platforms reduce geographic and language boundaries and involve patients in a unique and universal project. Their contributions are essential to increase the amount of scientific knowledge that experts have on rare diseases. Share4Rare has been designed as a global platform to facilitate the donation of clinical information to foster research that matters to patients with rare conditions. The codesign methods with patients have been essential to create a patient-centric design.

Sharing is caring: a call for a new era of rare disease research and development

“…The FDA's current Patient Focused Drug Development meetings [47] and/or Patient Listening Session [48] format could be used to reach consensus between stakeholders on priority research questions, terminology, data types and their uses (e.g., what constitutes 'regulatory-grade' data [49], dataset linkage mechanisms, and analytical methods, including endpoints and adaptive clinical trial design) that ultimately satisfy regulatory standards and span multiple disease groups. Best practices and guidelines should be determined according to successful, transparent collaborations between patient organizations and clinical research sponsors [50] (e.g., community advisory boards [51] and patient advocacy groups [52,53]) and the academic communities at large (see the FAIR principles -Findable, Accessible, Interoperable, Reusable [34] to guide the flexible (re)design of current and future registries). High-level research networks, such as the federation of children's hospitals, could represent key [55].…”

Identifying project topics and requirements in a citizen science project in rare diseases: a participative study

“…There are a variety of approaches and no generally accepted definition [ 25 , 26 ]. Particularly, there is still limited literature and best practices on the methodology of involving citizens in medical (informatics) projects [ 27 , 28 ], especially in the context of RDs [ 29 ]. Heyen et al published initial recommendations in a previous CS project in the field of RDs, which were taken into account in the study design [ 30 ].…”

Co-constructing effective collective intelligence networks in rare diseases: A mixed method approach to identify the parameters that matter for patients, professionals and policy-makers

“…Even though there are multiple social networks using or Web 2.0 software to source collective intelligence [3] (33] for clinical and patient support purposes, they are either nonspeci cally focused on rare diseases or address either the patients/families (carers) or clinicians 4 . Within rare diseases, the closest projects in terms of mindset and methodology, using social media platforms and collective intelligence principles to generate collective awareness and advanced knowledge on this group of diseases is the Share4Rare project [24] [34] and Patients Like Me [35]. The target group of the Share4Rare project is the international patient and family community (carers) whom it aims to bring together to support each other and exchange information to help advance rare disease research.…”

“…It can equally serve patient education and informed decision-making through comprehensive information about the disease itself, direction and experience-based support from other patients. As the results presented in this article and similar minded projects point out [34] [24], collective intelligence platforms can greatly assist research on rare diseases, capitalising on the enormous potential of collective intelligence tools to harness patient knowledge capital [23].…”