Duchenne muscular dystrophy is a serious genetic disease, which is caused by a mutation in a gene called dystrophin. The disease mainly affects boys and occurs in 1 one child in 5000.
The disease is characterized by progressive muscle weakness: the first symptoms appear in about 3 years. Gradually the children lose the ability to move independently and care for themselves. The disease affects the respiratory muscles, which ultimately leads to death at a fairly young age.
Despite the fact that in recent years began to appear the medication intended for treatment of such patients, help these drugs are not for everyone, but only to a limited group of patients carrying certain mutations in the genome. The only drug approved by the FDA, is now uteplassen. Another drug for patients suffering from this disease, is ataluren – it is approved for use in Europe.
Recently the pharmaceutical company Pfizer announced the beginning of the next phase of clinical trials of the drug PF-06939926. It represents an adenoviral capsid containing a shortened version of the human dystrophin gene – is it damaged in patients with Duchenne’s myodystrophy. Drug developers hope that part of the gene that will be introduced into the patient, enough to correct a hereditary defect that causes the disease.
The creators of the medication hope that the drug will slow the progression of muscle weakness and other manifestations of the disease. The first dose of drugs already introduced the first patient, and just assumes that the trials will involve 12 people. The results will be known in the first half of 2019.