Inborn errors of metabolism (IEM), also called inherited metabolic diseases (IMD), are a group of more than 1000 genetic, metabolic diseases that a relatively small number of babies are born with. While these diseases are individually rare (i.e., birth prevalence of 1:10,000 to 1:1,000,000), when considered together, they affect a significant number of babies, children and adults.

Diagnosis, treatment and management of these diseases is often difficult for patients, families, health care providers and communities. This is partly because research on how best to treat and manage patients with IEM is challenging to do – mostly because of the relatively small numbers of people that suffer from each individual IEM, and because most patients have unique symptoms requiring tailored treatment and management (also known as ‘clinical heterogeneity’).

The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a multidisciplinary practice-based research network designed to develop an evidence-informed approach to health care for paediatric IEM. CIMDRN will address many of the complexities associated with studying these diseases and aims to support health care providers and decision makers in providing the best health care possible to patients with IEM.

For more information on CIMDRN’s research objectives, methods and tools, click here


Funded by (TR3-119195):

© 2015 Canadian Inherited Metabolic Diseases Research Network

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Last updated: 21-April-2020