Limb girdle muscular dystrophy 2E/R4, also known as beta sarcoglyanopathy, is a progressive genetic condition caused by changes in the protein called beta-sarcoglycan. It affects the muscles around the hips and shoulders before progressing to the leg and arm muscles. There are currently no treatments for this condition.
Sarepta Therapeutics have begun screening − matching potential participants with their eligibility criteria − for a clinical trial to investigate a gene therapy, SRP-9003, to treat LGMD2E/R4. SRP-9003 is an investigational gene therapy, which can be delivered into muscle tissue, including the heart. This is very important for people living with LGMD2E/R4, as the condition affects their heart muscle. The therapy is intended to deliver full-length beta-sarcoglycan into the cells of people living with LGMD2E/R4.
The trial, called EMERGENE, is a phase III, open-label, multi-national clinical trial. It will recruit 15 participants aged four or over; those who can walk and those who use a wheelchair. Recruitment will start at the US sites first − we’ll provide an update about potential UK/European sites when this information becomes available.
Read Sarepta Therapeutics’ press release in full here.