Professor Volker Straub, who is Theme Co-Lead for Neuromuscular Disease, Rare Diseases and Mitochondrial Dysfunction at the NIHR Newcastle BRC and the Chief Investigator and Director of the John Walton Muscular Dystrophy Research Centre, stresses “The long term partnership we enjoy with the Jain Foundation is driving clinical trial readiness for this rare Limb Girdle Muscular Dystrophy (LGMD). With clinical trials in the pipeline, sustaining the study at this point of time is critical for the community. Study participants have given a large amount of time to generate this data set, but the high level of retention and feedback from participants suggests the experience of participating in this observational study is highly valued by the cohort. It is a tribute to the multidisciplinary study teams at each of the international collaborating centres that the data set is recognised internationally by stakeholders as the go to data set for this disease. Without industry recognition of the data quality, this extension would not be happening. New to this extension is the addition of wearable activity monitor data. I am delighted we are able to continue for another three years and hope the new data items will enable us to build real world data into clinical trial protocol development and facilitate comparison with other LGMDs.”
Most patients with genetically diagnosed Dysferlinopathy seek support from medical professionals due to motor function symptoms. However, on occasion a genetic diagnosis is obtained before symptom onset due to a coincidental blood test or an affected older sibling. An additional study, Clinical Outcome Study in PRe- and Early-symptomatic PAtients with REcessive Dysferlinopathy (COS-PrePARED), also being done in collaboration with the Jain Foundation, is being set up to study the very early natural history of the disease and gain a deeper understanding of symptom onset. COS PrePARED will recruit international participants and run at Newcastle only.
Dr Lisa Alcock manages the Gait laboratory at the Clinical Ageing Research Unit and will be leading the gait sub-study investigating longitudinal changes in walking patterns in the Newcastle cohorts from both the COS extension and COS PrePARED: “We are extremely grateful to the Jain Foundation for their initial suggestion to undertake an instrumented gait assessment as part of the Clinical Outcomes Study at Newcastle. This allowed walking patterns in dysferlinopathy to be characterised and for us to explore the clinical utility of walking in this cohort – can we use walking patterns to inform us about disease severity, progression and therapeutic response? The recently awarded funding and associated PhD studentship will enable us to build upon what we have learned to date about walking in dysferlinopathy and investigate the relationship between gait and other markers that are used in neuromuscular diseases such as magnetic resonance imaging and traditional clinical rating scales. With this support, we can work towards monitoring walking patterns in the real world in future clinical trials.”
Prof Andrew Blamire, Dean of the Institute of Translational Medicine at Newcastle University and MRI lead for both studies echoes Volker and Lisa’s comments. “We really should credit the Jain Foundation, both for their vision to convene the Jain COS consortium way back in 2012, and their continued partnership with Volker to identify gaps and opportunities to add to the body of knowledge. Our ongoing partnership and the multidisciplinary nature of the study team offers hope for this rare disease.”
Volker Straub’s time to perform the Chief Investigator role for this study is supported by the Newcastle NIHR Biomedical Research Centre. Both studies are sponsored by Newcastle upon Tyne Hospitals Trust.
Requests for COS data or the related biobanked samples can be made to This email address is being protected from spambots. You need JavaScript enabled to view it.. Information about the PhD Studentship can be obtained from This email address is being protected from spambots. You need JavaScript enabled to view it.. Inquiries regarding the COS PrePARED study can be made to Heather Hilsden at This email address is being protected from spambots. You need JavaScript enabled to view it..