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. A new grant (£1m) has been provided 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.
Volker Straub, who is Theme Co-Lead for Neuromuscular Disease, Rare Diseases and Mitochondrial Dysfunction at the NIHR Newcastle BRC, the Chief Investigator and Director of the John Walton Muscular Dystrophy Research Centre, stresses “The long term partnership we have enjoyed with the Jain Foundation is driving clinical trial readiness for this rare Limb Girdle Muscular Dystrophy (LGMD). With clinical trials in the pipeline, setting up this study at this point of time is critical for the community. Feedback from participants in the sister study (the International Clinical Outcome Study) suggests the experience of participating in an observational study is highly valued by the community.”
Dr Meredith James, lead physiotherapist, said “Through COS PrePARED, we will characterise the initial presentation of the disease in order to diagnose earlier with future potential to treat sooner.”
Prof Andrew Blamire, Dean of the Institute of Translational Medicine at Newcastle University and MRI lead echoes Volker’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 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.
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