Myositis registries and biorepositories

Abstract

Purpose of review Clinical registries and biorepositories have proven extremely useful in many studies of diseases, especially rare diseases. Given their rarity and diversity, the idiopathic inflammatory myopathies, or myositis syndromes, have benefited from individual researchers’ collections of cohorts of patients. Major efforts are being made to establish large registries and biorepositories that will allow many additional studies to be performed that were not possible before. Here we describe the registries developed by investigators and patient support groups that are currently available for collaborative research purposes. Recent findings We have identified 46 myositis research registries, including many with biorepositories, which have been developed for a wide variety of purposes and have resulted in great advances in understanding the range of phenotypes, clinical presentations, risk factors, pathogenic mechanisms, outcome assessment, therapeutic responses, and prognoses. These are now available for collaborative use to undertake additional studies. Two myositis patient registries have been developed for research, and myositis patient support groups maintain demographic registries with large numbers of patients available to be contacted for potential research participation. Summary Investigator-initiated myositis research registries and biorepositories have proven extremely useful in understanding many aspects of these rare and diverse autoimmune diseases. These registries and biorepositories, in addition to those developed by myositis patient support groups, deserve continued support to maintain the momentum in this field as they offer major opportunities to improve understanding of the pathogenesis and treatment of these diseases in cost-effective ways.

Risk factors and disease mechanisms in myositis

“…In the future, emphasis needs to be placed on multidisciplinary collaborative investigations of genetic and environmental risk factors and their interactions, as well as pathogenic mechanisms in homogeneous, well-defined phenotypes, utilizing the many IIM registries and repositories that have been developed to allow for the most cost-effective strategies 186 . More investment in these areas seems appropriate to develop preventative strategies and to allow for innovative approaches to treatment as new pathways to disease are discovered.…”

B Cells as a Therapeutic Target in Paediatric Rheumatic Disease

“…Due to the rarity of JDM cases, it is extremely hard to carry out functional assays to understand what underlies B cell dysfunction in JDM. Nevertheless, large cohorts of JDM patients such as Juvenile Dermatomyositis Cohort Biomarker Study and Repository (UK and Ireland) (JDCBS) and the Myositis Genetics Consortium (MyoGen) are now being used to address how B cell function is altered in children with JDM (85, 86). For example, using patients recruited to the JDCBS, it was recently reported that CD19 + CD24 hi CD38 hi B cells are expanded in the peripheral blood of JDM patients that are naïve of immunosuppressive treatment, demonstrating that similarly to other rheumatic disorders normal B cell development is affected.…”