CIMDRN’s Research Objectives, Framework and Platform

Inborn Errors of Metabolism: Need for Evidence

Due the complexity involved in studying rare diseases generally, and IEM more specifically, multiple approaches will be needed to generate the evidence required to inform effective and appropriate care for children with IEM. As such, CIMDRN will take a clinical evaluative approach to rigorously gathering observational evidence in a real-world setting (Westfall et al., 2008, JAMA). This approach has also been described as practice-based research and described as follows:

“Practice-based evidence… accommodates multiple concurrent interventions and patient characteristics that reflect actual clinical practice, using data from natural settings to describe the content and timing of treatments that are associated with better outcomes (including patient reported outcomes) for patients with specific characteristics.” (Horn & Gassaway, 2010, Med Care, p.S17)

Essentially, this approach will best be able to identify the most optimal interventions at the appropriate times for the appropriate patients – also known as personalized care and defined broadly by Feero and colleagues (2008, J Am Med Infom Assoc, pg.724).

CIMDRN Objectives

CIMDRN will:

•       focus on improving outcomes described by Berwick et al. as the “triple aim” (Health Affairs, 2008) i.e.,

•       improving patient experiences with care,

•       improving health outcomes in the population,

•       managing health system impacts;

•       consider and integrate a variety of interventions, patient characteristics and other factors that may influence outcomes; and

•       emphasize research themes that capture the highest priority questions across IEM regarding both clinical care and health policy.

Priority Research Themes

To-date, CIMDRN has identified three common themes that capture priority research questions regarding both individual patient care and health policy for IEM:

1.     Clinical heterogeneity and personalized care: Manifestations of many IEM range from mild forms that may require little intervention to severe forms with high risk for morbidity and mortality. There is a need to tailor approaches to health care to account for the needs of individual patients.

2.     Paradigm shift from “urgent care” to “opportunity for improvement”: Traditional treatment goals for many IEM focused on prevention of catastrophic outcomes. Improvements in available treatments have meant that more patients are surviving with future severe sequelae, leading to a shift in goals toward achievement of optimal outcomes.

3.     Comparative effectiveness: Treatments for IEM are developing rapidly. We need to critically evaluate the comparative effectiveness of emerging with established therapies, focusing on outcomes across the triple aim.

CIMDRN Practice-Based Research Framework

Integrating our research themes with the need to consider complex, multi-level interventions in a multidisciplinary practice-based context, CIMDRN has developed the following framework to guide our program of research (Potter et al, 2012 Gen Med):

Research Program

Guided by the practice-based research framework, our initial program will focus on three key goals:

•       To describe the distribution of clinical, patient-centred, and health system outcomes for Canadian children with a broad range of IEM;

•       To investigate the association between patterns of clinical and health system interventions and these outcomes for a smaller set of IEM, accounting for differences in patient characteristics and disease severity;

•       To investigate each priority research theme through “Case Studies”: focused sets of research questions that serve to answer key questions about particular IEM and provide insight into the theme as a whole.

Our research platform, framework, and network are sustainable tools that can accommodate new research questions, themes, and IEMs into the future.

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© 2015 Canadian Inherited Metabolic Diseases Research Network

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Last updated: 27-October-2017