Researchers at Newcastle University are calling for people with hereditary inclusion body myopathy to join a new registry which has just been launched. Hereditary inclusion body myopathy is also known as GNE myopathy, Nonaka disease, Quadriceps-sparing myopathy or distal myopathy with rimmed vacuoles. It is a rare, and progressive condition which is caused by mutations in the GNE gene which carries the genetic blueprint for a protein which builds a complex sugar needed by our cells. How mutations in this gene cause muscle weakness and wasting is still not fully understood.
The registry will collect data that will help clinicians, researchers, patients, and families to understand the condition better, as well as to help drive clinical trials and research that could lead to effective treatments for the condition. The registry is part of a larger project called the “GNE myopathy Disease monitoring program: A Registry and Prospective Observational Natural History Study to Assess GNE myopathy (or GNE-M DMP)” that also includes a natural history study. This study will assess quality of life, perform various muscle tests and analyse biomarkers to assess natural progression of the disease.
The researchers leading the study said:
To better understand the disease we have created a program, which combines a patient registry with a Natural History Study. This allows us to gather comprehensive information on the clinical presentation and progression of the disease to be collected for several years. The registry connects patients and families with doctors and researchers by making sure that patients’ details are all collected in a single database or “registry” in a safe and ethical way. Information on changes in muscle function, mobility and quality of life over time will be reported by patients anonymously directly through a web form. The GNEM Patient Registry is available worldwide for all GNEM patients who are over 18 years old.
People wishing to find out more about the registry or to join can visit the website at http://gnem-dmp.com or contact the team at Newcastle University at HIBM@treat-nmd.eu or 01912418640.
Anne Keenan, who has recently joined the registry said:
I was delighted to see how simple and straightforward the GNE registry was to fill in as I had been dreading putting into words what has been going on in my life for the past twenty five years. However, there was no need as it is a questionnaire with all the relevant data that only needs a click to answer. It also feels good to know that at last something is happening for GNE myopathy patients.
Links and further information
Visit the new registry website
Find out more about patient registries
Read our FAQ about patient registries