An international team of researchers, led by Prof. Kate Bushby at Newcastle University and funded by the Jain Foundation, has launched an international clinical study into limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. The study aims to identify methods which could be used to measure disease progression or improvement in future clinical trials of new potential treatments.
During the last few weeks, the first participants were enrolled in the “International Clinical Outcome Study for Dysferlinopathy”. The dysferlinopathies are a group of conditions that are caused by mutations in the gene that carries the genetic blueprint for the dysferlin protein. The mutations can lead to a deficiency in the dysferlin protein, which can cause a spectrum of muscle problems; the most common being limb girdle muscular dystrophy type 2B and Miyoshi myopathy.
Over the past decade, significant progress has been made in the study of the dysferlinopathies, and new potential treatments for these conditions might soon be ready for testing in clinical trials. However, before these trials can be set up, researchers need to understand how the conditions progress and have ways to measure this progression. This will let them test the effectiveness of any new potential treatment. The clinical outcome study aims to study this disease progression and identify the tests or disease characteristics that are most suited to measuring the changes. These features or tests are called “clinical outcome measures” and will be identified using a comprehensive set of medical, physiotherapy and Magnetic Resonance Imaging (or MRI) assessments.
The study also aims to help identify biomarkers of the conditions. These are molecules in our body whose levels change in response to disease and which can be measured easily. Blood samples and skin biopsies collected from volunteer study participants will be stored in a “biobank”, which will give researchers access to the samples in the future; to find, for example, suitable molecules and determine how they are altered by disease. Together, the identification of reliable biomarkers and clinical outcome measures, will let researchers involved in future clinical trials monitor the effects of potential treatments in the most complete and non-invasive way possible.
The international study is co-ordinated by Prof. Bushby’s team at Newcastle University, which receives support from the Muscular Dystrophy Campaign, including funding for a clinical trial co-ordinator. Beyond Newcastle, the centres taking part in this study are located in Germany, Spain, Italy, France, USA, Japan and Australia. The study is funded by the Jain Foundation in the USA and funds are available to cover travel costs for the study participants and a helper if needed.
A study participant said:
I wanted to take part in this study as I, like many others, live in hope that one day a treatment will happen. If my contribution does not help me then I hope it may help others in the future. I was quite daunted at the thought of more tests but so far everyone has been great, a pleasure and a privilege to take part.
To find out more about the clinical outcome study for dysferlinopathy, please see the links below. Patients aged 10 years or older, who have a genetically confirmed diagnosis of LGMD2B, Miyoshi myopathy or any other form of a “dysferlinopathy” and would like detailed information about the study or to discuss their participation, can contact the study team directly at firstname.lastname@example.org or by phoning +44 (0)191 2418941.
Further information and links
To read more about limb girdles muscular dystrophy type 2B
For more details about this clinical outcome study
To view our clinical trials FAQ