Rare Childhood Diseases: Epidemiology, Interventions, and Outcomes
Lead investigators: Beth K Potter, Pranesh Chakraborty
Key collaborators: Brenda Wilson, Julian Little, Kumanan Wilson, Doug Coyle, Jonathan Kronick
Current support: Canadian Institutes for Health Research (CIHR) “Emerging team in rare diseases: achieving the ‘triple aim’ for inborn errors of metabolism” (2012-2017)
Rare childhood diseases are etiologically and clinically diverse. Despite this heterogeneity, they present similar challenges to the development and evaluation of interventions to improve health outcomes.
With an initial focus on inborn errors of metabolism, an emerging team has been funded by the Canadian Institutes of Health Research (TR3-119195) to establish the Canadian Inherited Metabolic Diseases Research Network (CIMDRN) – a multidisciplinary practice-based research network designed to develop an evidence-informed approach to health care for pediatric inborn errors of metabolism (IEM). CIMDRN will address many of the complexities associated with studying these rare childhood diseases and aims to support health care providers and decision makers in providing the best health care possible to patients with IEM.
Theme 1: Health system interventions
Health system-level interventions that aim to improve and protect the health of children with rare diseases include, for example, secondary prevention programs aimed at early detection and intervention (notably population-based newborn screening); programs to ensure access to treatments that would otherwise be prohibitively expensive; and coordination of primary and specialist care, including services such as multidisciplinary team care.
Most of our work within this theme has been related to newborn screening policy, including health technology assessment methods, consideration of ethical, legal, and social issues in policy development, and the development and evaluation of pre- screening education strategies. Projects we are developing emphasize the intersection of policy-level and clinical-level decision-making. We are particularly interested in the clinical heterogeneity of rare metabolic diseases and the challenges this poses to the development, delivery, and evaluation of health services. Insights from this work have broad relevance for personalized and patient-centred medicine.
Theme 2: Clinical management
The potential for health system-level strategies to result in improved outcomes among children with rare diseases is dependent upon the existence of effective interventions at the level of individual patient care. These clinical interventions may include orphan drugs, surgical care (including organ replacement), medical monitoring, and supplements or dietary/lifestyle modifications. The rapid pace of development of treatments coupled with the rare disease context has meant that effectiveness evidence is sparse. There is a particular need for comparative effectiveness research to better understand the value of emerging and established therapies.
Our work within this theme has included investigation of variation in the clinical management of inborn errors of metabolism and a review of the effectiveness of clinical interventions for metabolic diseases involving the fatty acid beta-oxidation pathway. This latter work has led to new questions about the value of different types of evidence in the context of rare diseases, particularly with respect to clinical heterogeneity and variation in treatment response.
Theme 3: Epidemiology and understanding of natural history
The development and evaluation of both system-level and clinical interventions requires high-quality evidence of the descriptive epidemiology and natural history of rare diseases. This evidence is essential for addressing the challenges of clinical heterogeneity, delivering personalized health care, and improving outcomes, including patient and family experiences with care.