Towards improved patient and system outcomes for children with rare diseases

INFORM RARE is a Canadian research network that is co-designed by patients and families, healthcare providers, policy-makers, methodologists, and research ethicists. Working together, we are evaluating new and existing therapies and developing and enhancing research methods to generate the evidence needed to improve clinical care, outcomes, and health policy for children with rare genetic diseases.

INFORM RARE’s research activities build on patient registries and other studies established by the Canadian Neuromuscular Disease Registry (CNDR) and the Canadian Inherited Metabolic Disease Research Network (CIMDRN).

Initially, INFORM RARE is focused on three rare diseases:

• Spinal muscular atrophy (SMA)

• Phenylketonuria (PKU)

• Mucopolysaccharidosis (MPS)

Research Themes

Cross-Cutting:

Patient Engagement

• Patients, caregivers, and patient organization representatives are involved as co-principal investigators, co-investigators and advisors in co-designing our research. Their contributions extend across all research themes, where they are actively involved in critical decisions.

• Learn more about patient partnership and engagement at INFORM RARE here.

Patient Registries

• INFORM RARE is developing and enhancing rare disease patient registries for SMA, PKU, and MPS.

• These registries will be used to facilitate the conduct of registry-based clinical trials.

• Explore our patient registries here.

Trial Methods

• Learn about our projects to establish best practices for innovative clinical trial methods here.

Health Economics

• Discover our projects related to evaluating the economic impact of interventions for children with rare diseases here.

Research Ethics

• Explore our projects investigating the ethical implications of data sharing in child health research here.

Disease-Specific:

INFORM SMA

Projects:

• Canadian spinal muscular atrophy patient registry.

• Core outcome set for spinal muscular atrophy.

• Registry-based randomized controlled trial for a novel exergame (active videogame) and a new device to measure its effectiveness with respect to motor outcomes.

• Learn more here.

INFORM PKU

Projects:

• Canadian phenylketonuria patient registry in partnership with Canadian PKU & Allied Disorders Inc.

• Core outcome set for phenylketonuria in children/youth aged 12 years or younger.

• Registry-based randomized controlled trial to compare the effect of two medical formulas on phenylalanine tolerance and dietary acceptability.

• Learn more here.

INFORM MPS

Projects:

• Canadian mucopolysaccharidosis patient registry in partnership with the Canadian MPS Society.

• Core outcome set for mucopolysaccharidosis.

• Registry-based randomized controlled trial to evaluate the efficacy of adalimumab (Humira) versus placebo on bodily pain.

• Learn more here.

Related Research:

The Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

• Learn more about CIMDRN here.

Family-Centred Care Study

• Learn more about the Family-Centred Care Study here.