World Duchenne Awareness Day: How clinical trials are bringing hope to children and families living with DMD

Today, September 7th, on World Duchenne Awareness Day, we are highlighting Duchenne Muscular Dystrophy (DMD). DMD is a rare and progressive genetic disorder affecting muscle strength and function almost exclusively in boys. DMD symptoms are first identified at around age 2, but a confirmed diagnosis is often received between the ages of 4 and 5. In Ireland approximately 10 boys are diagnosed with DMD each year. At present, treatment options for this condition remain limited, leaving children and their families urgently hoping for therapies that address the root cause of DMD and offer the potential to slow or halt the progressive loss of muscle function.

Through participation in international clinical trials and research, Children’s Health Ireland (CHI) is managing to provide children with access to pioneering treatments and care for DMD. Working in tandem with the CHI Clinical Research Centre, the Neurology multidisciplinary team has opened 7 new clinical trials over the past 7 years. This has only been possible with vital support from the Children’s Health Foundation and leadership of Dr. Declan O’Rourke and Dr. Denise McDonald.

One of these trials was a Phase 1 trial run in partnership with the St. James Hospital Clinical Research Facility and was the first paediatric first-in-human trial in Ireland. This research has significantly enhanced the hospitals’ ability to conduct complex clinical trials. These types of trials are essential for testing the safety and potential effectiveness of novel therapies, particularly those that target the underlying genetic causes of DMD. By building this infrastructure within CHI, the team is helping to position CHI as a world-leading centre for paediatric neurology research. Most importantly, their efforts are bringing real hope to children living with DMD and their families, offering access to new treatments that could slow the disease’s progression and improve quality of life.