Active Implementation of Australian Consensus Guidelines for the Effective Delivery of Clinical Services to Patients with Mitochondrial Disorders

Mitochondrial Respiratory Chain Disorders (MRCD) are among the most common inborn errors of metabolism, with a conservative estimated incidence of 1 in 5000 births. The majority of these disorders present during infancy, and have a more severe and acute phenotype, while adult cases typically have milder chronic phenotypes. There are currently no effective therapies for MRCD, but there are treatments that can alleviate symptoms and improve quality of life but no standardised national approach. The aims for the project are to: 1. To understand current clinical contexts and readiness for implementation
2. Identify barriers, enablers and unexpected sequelae of the clinical implementation of a standardized approach to the management of mitochondrial disorders (using the AMDF commissioned consensus guidelines) using an evidence-informed approach
3. Develop context-appropriate solutions at different sites using a range of data collection activities using theory-informed analysis
4. Examine interdisciplinary team dynamics and communication pathways to assess for translatable success factors using social network analysis
5. To understand the patient experience of management before and after implementation of the new guidelines