A Monaco-based charity with an international impact

Duchenne Muscular Dystrophy is a genetic disease that affects approximately 1 in 3,500 boys. It is caused by a defect in the genetic sequence of dystrophin, an essential protein that helps maintain muscle structure and function. Without dystrophin, muscle fibers deteriorate over time.

The dystrophin gene (the longest gene in humans) is located on the X chromosome, so DMD almost exclusively affects boys; girls, who have a second X chromosome, are very rarely affected).

DMD can be inherited from a carrier parent, usually the mother, who is often unaware of her carrier status due to the lack of symptoms. In some cases, however, the condition results from a spontaneous mutation that occurs in the reproductive cells, meaning there is no family history of DMD.

DMD is generally diagnosed around the age of 4 or 5 when close family members notice delays in motor development. Symptoms often include frequent falls, difficulty with running, jumping or climbing stairs.  These early signs usually prompt further evaluation, leading to the diagnosis.

DMD is a progressive disease in which muscle fibers – notably those of the heart – gradually degenerate. The impairment of cardiac and respiratory functions is usually an inevitable critical point that results in a shortened life expectancy, with many affected individuals passing away between the ages of 19 and 30.

To date, while medical care options such as physiotherapy, medications to manage symptoms, braces and standing wheelchairs have improved comfort and extended cardiac and respiratory function, no treatment currently exists to replace dystrophin, the missing protein essential for muscle integrity, at effective levels. This limitation highlights the urgent need for breakthrough therapies capable of restoring or compensating for dystrophin loss.

In recent years, substantial funds raised through Only Watch have been directed towards the developing of promising therapeutic compounds and on setting up a clinical trial for a therapy developed SQY Therapeutics, a non-profit biotech (owned by an endowment fund created by Associations called the Splice Fund).

The clinical trial symbolizes the beginning of a new era and a much larger scale of impact for our Association. If results are positive, the safety phase will be followed by efficacy phases and the development of similar drugs for other types of deletion on the gene (there are different types of genetic flaws on the same gene that lead to Duchenne muscular dystrophy – the first drug developed and tested targets exon 51).

In parallel, because therapy and care will always be plural and because the subject is so wide, the Association will continue to fund initiatives, young talent and brilliant committed minds of all generations and in all types of environments (hospital, university, patient-oriented biotechs…) on topics such as: the evolution of the heart in Duchenne, the ability of modified blood cells to repair muscle, the development of new techniques to sample muscle without pain and scars, R&D on new types of mobility aides… and more.

The gene responsible for DMD is the longest in human DNA, which poses unique challenges in research and treatment. Addressing these challenges has driven innovations in gene-editing techniques, mutation repair, and therapy delivery, opening promising new avenues for treating other genetic disorders. When our research enables advancements in other areas, we are committed to fostering these discoveries, especially for rare diseases where funding is scarce. This commitment has inspired us to expand our motto: “Accelerating research on Duchenne muscular dystrophy and genetic diseases.”