Muscular Dystrophy is a hereditary condition marked by progressive weakening and wasting of the muscles. There are approximately 30 muscular dystrophy diseases each with a separate cause. Some are obvious at birth, others develop during childhood and some only become apparent in adults. The most common muscular dystrophy, Duchenne, typically affects young boys.
For those diagnosed with muscular dystrophy there is currently no cure, only medications and therapy that can slow the process.
Researchers at the Institute are trialling a new compound to prevent progressive muscle weakness and wasting in kids with Duchenne muscular dystrophy.
Led by Dr Shireen Lamande, researchers are building on research showing that replacing the missing muscle protein with a similar protein normally found in only small amounts in muscle can offer therapeutic benefits.
“The compound is currently being tested on mice, and it boosts an alternate protein to dystrophin, the missing protein that is the cause of Duchenne muscular dystrophy,” said Dr Lamande.
The research aims to create a drug safe for human consumption that will enhance quality of life for those diagnosed with this progressive disease.
Currently to help ease discomfort, reduce joint problems, and prevent or delay spinal curvature for diagnosed children parents rely on advice from physiotherapists for stretches and exercises, and the prescription of orthoses and other orthopaedic devices. Occupational therapists can also provide advice on sitting positions and activities.
While these treatments can keep children walking for longer and increase independence, these approaches cannot address progressive muscle wasting leaving families with little options.
Through this project the Institute hopes to provide evidence to support a clinical trial with this safe compound in children and to develop an alternative more effective therapy for families around the world.