Transforming Childhood Arthritis Outcomes through Precision Health Research

Juvenile idiopathic Arthritis (JIA) is a childhood autoimmune condition that causes pain, stiffness and swelling of the joints and other supporting structures of the body. It is thought to arise from a combination of genetic and environmental factors and affects about 3:1000 Canadian children. One of the challenges in treating childhood arthritis is providing the right treatment at the right time. Although advanced biologic therapies are frequently used and can be highly effective in reducing joint inflammation and pain, we are currently unable to accurately predict which children should start biologic therapies and which can discontinue treatment without having disease flares.

Canadian Institutes of Health Research (CIHR) and Genome Canada funded the international research programs UCAN CAN-DU: Canada-Netherlands Personalised Medicine Network in Childhood Arthritis and Rheumatic Diseases and UCAN CURE: Precision Decisions for Childhood Arthritis led by Drs. Susa Benseler and Rae Yeung, to address gaps in treatment approaches and support translational research for all children with juvenile arthritis. Together, the team is focusing on developing new concepts for standardized evaluation of:

  • Disease activity, quality of life and health economic outcomes,
  • Novel electronic decision tools for clinicians and patients, and
  • Real-time integration of individual biological profiles with physician and patient inputs to optimize decision making.

As part of UCAN CAN-DU and CURE, Dr. Deborah Marshall leads the health economic research activity. This includes developing key performance indicators (KPIs) to inform standardized measurement of the process of care, measuring physician and patient and family preferences related to tapering of biologic medications, and modelling the cost-effectiveness of treatment strategies informed by individualized biological profiles. This work was undertaken in collaboration with a patient advisory committee that includes parents from Canada and the Netherlands, and Cassie+Friends (a Canadian patient advocacy organization dedicated to the paediatric rheumatic disease community). This research led to advances in knowledge about the quality of life and costs in JIA, the complexity of disease-modifying anti-rheumatic drug treatment patterns in JIA in Canada, and hospital care and medication costs in the Dutch Health Care System.

Building on the UCAN program, Dr. Marshall and team developed a framework to guide future studies to fully capture the socioeconomic cost of rare diseases, including cost categories and elements to consider in the analyses. This framework will help researchers conduct high-quality studies by providing a comprehensive and standardized list of cost elements and will guide decision-makers in addressing the socioeconomic impact of rare genetic diseases in Canada and beyond.

With the support of UCAN and partnership with Cassie+Friends, Dr. Marshall received funding from the Alberta Children’s Hospital Foundation to fund the JIA Patient and Community Engagement Research (PaCER) cohort to train a group of youth with lived experience of JIA in patient-engaged research.

The JIA-PaCER patient partners brought their lived experience of JIA transition to conducting research on the transition from paediatric to adult care in rheumatology in a patient-led study published to guide patients, caregivers, paediatric and adult rheumatologists and other members of the multi-disciplinary care team and provide support to JIA patients during this process. These patient recommendations have already directly impacted programming by Cassie+Friends to support youth with childhood arthritis.

The critical partnerships with Cassie+Friends in UCAN and the JIA PaCERs also played an instrumental role in securing funding for the European Joint Programme for Rare Diseases (EJP RD) grant, which supported Dr. Marshall’s project titled Producing an Arthritis Value-Framework with Economic Evidence – Paving the Way for Rare Childhood Diseases (PAVE). The PAVE team is a strong international partnership of 6 countries including clinical leaders, researchers, social scientists and strong engagement with patient organizations. This project will build a value framework to investigate the socioeconomic impact of living with a rare disease, with data-informed calls to action to measure and ultimately reduce the cost and impact of childhood arthritis. Patient and family research partners will co-design and help define the value framework and identify strategies to improve the lives of people living with JIA.

Dr. Marshall is part of the team (Value, Impact and Knowledge Mobilization Accelerator lead) spearheaded by Dr. Susa Benseler and her team based at the Alberta Children’s Hospital Research Institute (ACHRI). In April 2023, they received the Canada First Research Excellence Fund to support the One Child Every Child initiative to promote equitable improvement of children’s lives worldwide. Precision health and wellness is one of the initiative’s strategic areas, focusing on improving diagnosis and treatment for children with chronic and complex medical conditions.

Collectively, these activities are improving capacity building in patient-oriented research, which contributes to patient research partners’ involvement in research by sharing critical experiences of living with a health condition with other experts in JIA, ethics, law, and data sharing.

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