Abstract
Background. Idiopathic Inflammatory Myopathies (myositis) are a group of rare neuromuscular diseases. Conditions within this group include Dermatomyositis (DM), Necrotising Myositis (NAM), Polymyositis (PM), Overlap Myositis and the currently untreatable Inclusion Body Myositis (IBM). It is well established that patients within research-active clinical environments have better outcomes and development of effective disease-modifying treatments is dependent on translational, patient-centered research.
Aim: Establishment of a translational research programme within specialist myositis outpatient clinics at Perron Institute for Neurological and Translational Science and Murdoch University (Perth, Australia).
Methods. Facilitated through a significant patient bequest towards myositis re¬search, a laboratory and clinical research programme was founded in 2017 by Professor Merrilee Needham. Appointment of laboratory and clinical research leads supported new workflows where during clinic visits, patients meet with research nurses/coordinators and are provided the opportunity to take part in myositis research, including donating blood and urine samples that are taken directly to the on-site laboratories for analysis. Consented patients are also enrolled in the team’s emerging observational Myositis Registry, and natural history data is collected via questionnaires and outcome measures through our team physiotherapist. At their clinic visit, patients are kept up to date with clinical trial opportunities and research news. For those actively taking part in clinical trials, re¬search visits are often aligned with clinic appointments, increasing convenience and ease of participation. Within our laboratory programme, Lead Scientist Dr Jerome Coudert and his team are characterising the immune profiles, underlying pathways and mechanisms, genetic and metabolic changes of patients over time, as well as performing detailed analyses on blood, urine and muscle samples. A critical element of the research clinic model is keeping patients actively engaged with the research programme. Our patients are kept up to date with current and upcoming projects, advise us of what is important to study next, and are actively participating in project design and review. In recent years, our group has been complimented by an increasing number of higher degree students as well as medical students, across both the clinical and laboratory arms of the programme.
Results. At time of submission, we have over 400 active patients and disease-control participants, with over 2,000 samples collected and biobanked. Our ethical approvals support invitation of participants to take part in future studies based on genotype or phenotype of interest. Our programme has supported five Investigator-Initiated clinical trials over the last 3 years and four commercial clinical trials in myositis. Our highly collaborative approach sees growing national and international collaborative projects and grant applications. In 2020 we received a $1.8M grant from the Australian Government to lead an international, multi-site, Phase 3 trial of Sirolimus in IBM.
Conclusions. Research allows us to offer our patients hope and to partner with them on the journey to finding new treatments and improving quality of life. Our translational programme features a direct and bi-directional pipeline between laboratory and clinical research, built on a solid foundation of observational research projects designed to facilitate future research and treatment trials in myositis.