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.

Keywords: Share4Rare; citizen science; genotype; natural history; participatory medicine; phenotype; rare disease.