A new era in medicine: the first commercial method of treating a deadly disease through gene modification

The retrovirus carrying the new version of the genome, in the artist's view

In Europe, gene therapy called Strimvelis is awaiting certification . If approved, it will be the first therapy with the use of gene editing to treat a deadly disease.

The disease that the treatment treats is called severe combined immunodeficiency (SCID, alimfocytosis, Glyantsman-Rinikera syndrome). It is also known as the "boy's bubble syndrome" - people with such a congenital defect are practically deprived of the immune system, extremely vulnerable to infectious diseases and forced to be in a sterile environment.
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One of the famous patients was David Vetter, whose case was widely reported in the media in the 1970s. In 1976, based on his life, the American television feature film “The Boy in a Plastic Bubble” (the traditional translation of the title “ Under the Cap ”) was shot with John Travolta in the lead role.

The therapy is owned by the British pharmacological giant GlaxoSmithKline, who acquired it in 2010 from the Milan Institute of Gene Therapy. She has already been successfully tested in Italy on 18 sick children, with the first treatment taking place 15 years ago. All of them are still alive. In total, about 14 cases of births of children with this disease per year are recorded in Europe.

In early April, the European Commission tentatively approved the treatment. It is expected that GSK will not have any problems with certification, and in case of a positive decision, it will be able to sell this therapy in 27 countries of Europe, and start the licensing process in the USA. Successful implementation of the plans of such a large company will open a new era in medicine.

“The idea that you no longer need to worry about anything and just be normal brings people to excitement,” says Marcia Boyle, founder and president of the Immunodeficiency Fund, whose son is one of 200 children now living with this serious illness. “I’m a bit skeptical about gene therapy, because we’ve been waiting for her for a long time, but it’s not so easy to fool mother.”

Traditional options for dealing with SCID are bone marrow transplantation (a complex and expensive operation, requiring the availability of suitable donors, and often fatal) or the use of substituents by an enzyme, one ampoule of which costs $ 5000.

In the new treatment system, through the editing of genes, physicians extract stem cells from the patient’s bone marrow, edit the in vitro genome, inject a new copy into the retrovirus, which then delivers it to the cells of the body.

According to information from the Alliance of Regenerative Medicine , genetic research is booming, companies involved in this type of activity received about $ 10 billion of investment in 2015. Currently, more than 5,000 different genetic diseases are known that are caused by a defect in just one gene, and several hundred treatment options are under development by editing genes. 70 types of therapy are in the final stages of testing.