A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases

Funding Information: Dorinda da Silva acknowledge the funding from LA/P/0045/2020 (ALiCE), funded by national funds through FCT/MCTES (PIDDAC). Pedro Granjo was supported by CDG & Allies funding. Cláudia de Freitas acknowledges funding from the Foundation for Science and Technology-FCT under the Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR) (LA/P/0064/2020), the individual contract grant DL57/2016/CP1336/CT0001. Publisher Copyright: © 2023 by the authors. At least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for rare diseases have been found, which demonstrates a lack of standardized approaches. The framework and PEMs were co-developed with CDG families and will be crucial in increasing health literacy and empowering families. We will close a gap in the creation of PEMs for CDG by delivering these resources in lay language in several languages. publishersversion published