Inform Rare is a Canadian research network co-designed by diverse stakeholders. The organization evaluates therapies, develops research methods, and aims to improve the care, outcomes, and policies for children with rare genetic diseases. Stakeholders include patients and families, healthcare providers, policy makers, methodologists and research ethicists, universities and research institutes, patient advocacy groups, and industry partners. Inform Rare is developing and enhancing rare disease patient registries for use in clinical trials addressing spinal muscular atrophy (SMA), phenylketonuria (PKU), and mucopolysaccharidosis (MPS).

Patient Involvement: Inform Rare includes parents, patient group representatives, and young patients as co-principal investigators, co-investigators, and advisors in their research studies. These individuals help to select and refine research questions and priorities, plan and conduct clinical trials, and disseminate study findings.

Initiatives: The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pediatric research network established by Inform Rare. So far, CIMDRN has: 1) established a comprehensive network of Canadian experts focused on pediatric inherited metabolic diseases; 2) conducted critical studies to understand variations in care, patient outcomes, and family perspectives on pediatric inherited metabolic diseases; 3) established a large research cohort, providing valuable clinical and family-reported data for future research; and 4) catalyzed research grant funding.

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