General therapy for "children in the bubble"

In the UK, the National Health Service said that it would pay for the genetic therapy of an innate disease that causes the child’s absence of immunity. The Strimvelis method developed by Glaxosmithkline will be the first type of gene therapy to receive state funding in the UK. Although the price of such treatment is more than 500 thousand pounds by experts recognized it more effective and, ultimately, more financially justified compared to therapy using regular medication.

The treatment method is intended to combat adenosinezamine deficiency (ADA Deficiency, Ada-Scid ). It is found in about one newborn one hundred thousand. Due to the mutation in the twentieth chromosome, patients in the body do not produce an adenosindezaminaz enzyme involved in the synthesis of purines. For this reason, the work of natural immunity is violated, and a person becomes vulnerable to any infection. Only half of the children with this genetic disorder lasts up to six months.

Immediately after the birth of such a child, it is necessary to place in a plastic ditch, inside which a sterile environment is created. In the future, children are forced to grow only in protected rooms, and, leaving outside, wear special protective costumes, so this disease is sometimes called the "child in the bubble." Enhangic replacement therapy can partially alleviate the condition of patients - constant intake of drugs that replace the missing enzyme. In some cases, bone marrow transplant can help patients.

The first successful use of genetic therapy in history was associated precisely with the treatment of ada-deficiency. This happened back in 1990, when in Betesd (Maryland, USA) , William Anderson, with the help of a modified virus, supplied the four -year -old girl ashanti de Silva with a serviceable copy of the gene. The treatment was successful, according to 2007, Ashanti de Silva was still healthy, although subject to regular medication.

In the 2000s, a number of successful cases followed the use of genetic therapy for ada-deficiency, as well as in some other types of congenital immunodeficiency. Scientists from the Milan Clinic of San Rafael , as well as Glaxosmithkline and Molmed, have created the Strimvelis method, which was suitable for wide clinical practice. Work on it has been conducted since 2002. 75% of children participating in the clinical trials of Strimvelis did not need further enzyme replacement therapy.

The method consists in obtaining hematopoietic stem cells in the patient, from which only cells expressing the membrane protein CD34 are taken for further use. These cells are cultivated with cytokines and growth factors, and then the adenosindezaminase gene is introduced using the virus. Then the cells are returned to the patient's body. They take root in the bone marrow, share and create mature cells with a normal adenosineamine gene. So far, all the required manipulations can only be carried out in the Milan Hospital San Rafael.

Similar treatment annually needs 14 - 15 people in the countries of the European Union and 12 people in the United States. The price of the course is high - 594 thousand euros, but compared to regular injections of enzyme replacement therapy, it is cheaper, since such injections will cost at least $ 4.25 million over ten years of life. Gene therapy is carried out only once and should then act all his life to the patient. In April 2016, the Committee of the European Agency for Medicines recommended the approval of the use of Strimvelis for children with adenosinezaminazis deficiency, which do not have a suitable bone marrow donor.

Now, in the UK, the treatment of ada-deficiency using genetic therapy will be paid by the National Health Service. Last Friday, the National Institute of Health and Clinical Improvement (National Institute for Health and Clinical Excellence, Nice) published a project management, which states that Strimvelis has the best indicators of patient survival compared to replacement therapy and ordinary stem transplantation. The authors of the document claim that such treatment will give children more likely to live a normal life, go to school and communicate with friends, without fear of a life -threatening infection.