Limb Girdle Muscular Dystrophy R2 Dysferlin related is a rare muscular dystrophy affecting an estimated 5-8/ per million population globally. Limb Girdle Muscular Dystrophies were first described by Sir John Walton after whom the centre is named.
Prof Volker Straub’s leadership of the Clinical Outcome Study (COS) of dysferlinopathy has helped ensure the success of this 16 site, global natural history study. COS has dramatically improved our understanding of dysferlinopathy, resulting in 14 publications to date. The International Clinical Outcome Study of Dysferlinopathy is now in its 12th year. Prof Straub’s Chief Investigator role in COS is supported by the NIHR Newcastle Biomedical Research Centre, where he is also Neuromuscular Disease, Rare Diseases and Mitochondrial Dysfunction co-Theme Lead.
Prof Jordi Diaz Manera has been pivotal in advancing MRI as a diagnostic tool for dysferlinopathy. His work revealed a specific signature of muscle involvement in Dysferlinopathy which can be used to distinguish between different types of neuromuscular disease. Jordi started this work as COS PI in Barcelona, however in 2020 Jordi joined JWMDRC as Professor in Neuromuscular Disease, where his work is a key component of the NIHR Newcastle Biomedical Research Centre Neuromuscular, Mitochondrial and Rare Disease theme. Both Prof Straub and Prof Diaz Manera were acknowledged with awards for Excellence in Clinical Studies.
Early Career Researcher Dr Meredith James focused her PhD on dysferlinopathy and led the development of the North Star Assessment for Limb Girdle type muscular dystrophies (NSAD). The NSAD is now being used to assess other diseases and has been incorporated into 7 clinical trial protocols. Meredith was acknowledged with an Extraordinary Impact Award. The Jain Foundation also recognised the importance of a Team Science approach, acknowledging Heather Hilsden, the project manager for the COS with a Leadership in Collaboration Award, citing her efforts to build wider networks to prepare for clinical trials.
Prof Straub commented:
“We should also commend the vision of the Jain Foundation in investing heavily in a natural history study. It can be extremely difficult to fund natural history research, but this significant investment and the collaboration of each and every member of the Jain COS Consortium worldwide has really accelerated progress in this rare disease. We now have a trial ready population, a number of effective outcome measures and a clinical network of trial ready sites. There is still a lot to learn about the early stages of the disease, and we certainly need to expand the ethnic diversity of studied cohorts, but as a model for rare disease research we are proud of the success of our international consortium. While dysferlin-deficient limb girdle muscular dystrophy is a rare disease, collectively speaking Rare Diseases are not rare and impact >3 million individuals in the UK. International collaboration, natural history studies and expertise in clinical outcome measures are essential to ensure nobody living with a rare disease is left behind as we further the sustainable development goal of universal health care coverage."
“We should also commend the vision of the Jain Foundation in investing heavily in a natural history study. It can be extremely difficult to fund natural history research, but this significant investment and the collaboration of each and every member of the Jain COS Consortium worldwide has really accelerated progress in this rare disease. We now have a trial ready population, a number of effective outcome measures and a clinical network of trial ready sites.
There is still a lot to learn about the early stages of the disease, and we certainly need to expand the ethnic diversity of studied cohorts, but as a model for rare disease research we are proud of the success of our international consortium. While dysferlin-deficient limb girdle muscular dystrophy is a rare disease, collectively speaking Rare Diseases are not rare and impact >3 million individuals in the UK.
International collaboration, natural history studies and expertise in clinical outcome measures are essential to ensure nobody living with a rare disease is left behind as we further the sustainable development goal of universal health care coverage."
Newcastle aims to be a world leading centre for Rare Disease research.