Grant: Planning and Dissemination Grant - Institute Community Support

Many new treatments are being developed for rare genetic diseases such as mucopolysaccharidoses (MPSs) and phenylketonuria (PKU). However, we often do not have strong evidence about how well such treatments work in practice, due to the difficulties in conducting research with small and diverse patient populations and limited resources. Disease registries present an opportunity to address this evidence gap. A disease registry is a centralized system that collects data on a group of individuals defined by a particular disease over time. Registries can provide long-term data to help us understand disease natural history and can be used as platform to support clinical trials. Registries can also foster patient-centred research by acting as a central networking point for all stakeholders around a rare disease. Canadian PKU & Allied Disorders Inc. (CanPKU) and the Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society) have partnered with the INFORM RARE research network to co-develop and launch two patient-oriented disease registries for PKU and MPS, respectively. We propose a one-day workshop to bring together a broad group of patients, caregivers, health care providers, researchers, government health agencies, and industry partners to discuss the next steps for these registries. We will identify stakeholder needs and preferences and work together to develop priorities for the future development, use, and potential expansion of the registries. We will invite 12-16 presenters and panelists to the workshop, including at least 6 patients or caregivers. We will adopt a hybrid meeting model, with up to 20 in-person attendees and about 25 online attendees. Through coordinated Canadian research that emphasizes patient priorities, we aim to improve health care and health outcomes for individuals with MPS and PKU.