Involvement of patient organisations in research activities: actions taken and lessons learned in a clinical research study for osteogenesis imperfecta.

Abstract

Background: Rare diseases are chronic, progressive, and debilitating conditions, affecting 3.5-5.9% of the global population. Clinical research studies are crucial for developing new diagnostic approaches and treatments and for overcoming the lack of awareness and the need of expertise surrounding these diseases. Involving patient organizations in clinical studies is widely considered a promising approach, to overcome barriers and to facilitate research activities. The aim of this paper is to present the actions taken, the relevant results, and the lessons learned from involving a patient organization in shaping, conducting, and disseminating a clinical study on rare patients with Osteogenesis Imperfecta.

Results: In a context of a clinical study in which patients underwent a comprehensive, fully instrumental gait analysis and an evaluation of specific movement tasks using stereophotogrammetry and wearable sensors, we assessed all the actions taken and the results achieved by the implementation of an original collaborative model between a public institution and a national patient organization. To generalize our collaborative experience, steps and stages of the research process that can benefit the most from the support of a patient organization were identified, experimental protocol drafting, ethic committee approval, patient enrolment, and dissemination. Patients reported positive feedback in a short questionnaire on the use case experience. Moreover, we highlighted the gains and the weaknesses of this approach.

Conclusions: This experience resulted in several benefits for all the actors involved, strengthening the collaboration between the PO and researchers and fostering a cohesive and cooperative network.