Strategy for Patient-Oriented Research (SPOR) INFORM RARE: An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases.

New treatments for children with rare genetic diseases are appearing at a rapid pace. Many of these treatments have been found to improve outcomes in highly selected groups of patients under very specific conditions.

In order to know how best to recommend, use, and pay for these treatments, patients and their families, health care providers, and policymakers need more evidence about how the treatments work in all patients and settings. We also need to understand what additional supportive interventions are needed to get the best value from new rare disease drugs in order to improve functioning, quality of life, and other patient centered outcomes.

In  SPOR INFORM RARE, a group of patients, family members, health care providers, policymakers, methodologists, and ethicists will work together to develop innovative registry-based randomized trials in order to rapidly develop comparative evidence about the effectiveness of treatments for rare genetic diseases in children. These high-quality trials will make use of comprehensive patient registries to enroll patients and measure outcomes. SPOR INFORM RARE will design and implement three inaugural trials to address priority questions for three rare diseases:

  • spinal muscular atrophy
  • phenylketonuria
  • mucopolysaccharidosis

EnRICH will contribute to SPOR INFORM RARE clinical trial methods.  These are scalable and the aim is to develop additional trials during and after the grant period for these and other rare diseases.

The study team, led by Dr. Beth Potter in Ottawa, was awarded a SPOR Innovative Clinical Trials multi-year grant by CIHR in 2020. The team has a strong knowledge user engagement strategy that ensures partnering with patients and family members to co-design the research. There are established partnerships with patient organizations, policy organizations, newborn screening programs, and other centres and networks. SPOR INFORM RARE’s patient-partnered, equitable, and scalable approach to generating evidence will inform decisions about rare disease care and health policy, toward improved patient and system outcomes.