Trialing a treatment for Duchenne muscular dystrophy

Muscular dystrophies are a group of genetic disorders that cause the wasting of skeletal muscles – the muscles that connect to bones and allow a wide range of movements and functions. Duchenne muscular dystrophy (DMD) is the most prevalent of these disorders with 20,000 young boys diagnosed globally each year.

DMD primarily affects boys and leads to pre-teen loss of muscle and mobility, and premature death. Low levels of tetrahydrobiopterin (BH4), an antioxidant and important factor involved in blood flow, are found in children with DMD.

Previous research suggests that short-term supplementation of mice with DMD with BH4 may improve the health of skeletal muscle. Therefore, this project will explore the long-term use of a clinically approved BH4 form to assess its potential to alleviate muscle wasting and premature death in DMD. The hope is that this treatment, which is already approved for other BH4-deficiency diseases, can be repurposed to reduce muscle wasting and improve the quality of life for boys with DMD.