Duchenne Muscular Dystrophy is the most common degenerative disease. Duchenne mostly affects males. One out of every 3,500 boys is born with Duchenne. The onset of the disease among girls is very rare but possible.
Due to the rarity of patients with the disease in relation to the general population, Duchenne is considered an orphaned disease. The sick boys are born with a genetic defect in which the body does not produce an essential protein called dystrophin.
In the absence of protein, the muscle cells are not protected but fragile and vulnerable. Any contraction of muscle, as a result of a routine action, causes destruction and increased destruction of muscle cells. With the continuous muscle damage, the normal muscle tissue is replaced by a fat tissue, similar to a scar, and at the same time inflammatory cells penetrate the muscle tissue, and the muscle mass is accelerated.
Until the age of 6, muscle mass in a sick boy decreases by about 50% for a healthy child at this age, while by age 12, most of the children would sit in a wheelchair and the disease rapidly progresses. Children may die in their second or third decade of life, as a result of heart or lung muscle failure.
To date, Duchenne muscular dystrophy is an incurable disease that gradually worsens and involves great suffering. There is steroid drug therapy to delay the disease with negative side effects. However, in August 2014, the world’s first drug, known to treat the cause of the disease, was approved and is suitable for a small proportion of Duchenne children who suffer from point mutation.
PTC’s new and revolutionary drug, Transcarlana, can cause the body to produce a portion of the missing protein, thus prolonging the boys’ lives by at least 5 to 10 years.
In 2017, the FDA approved another drug from Serafeta – Atelfirsen, which can skip Exon 51 however suits only a small group of children who have a deletion mutation. The new drugs that have been approved are the beginning of a new reality. Other technologies are in various stages of development – some are advanced. There are and will be more delaying and even therapeutic treatments, which will be suitable for all Duchenne patients.