Gene therapy of severe combined immunodeficiency
The success of gene therapy in the treatment of the "bubble boy"
In 2011, the journal ScienceTranslational Medicine published materials on two positive long–term results of the use of gene therapy in children with severe combined immunodeficiency syndrome (severe combined immunodeficiency, SCID).
SCID syndrome refers to orphan diseases and is a severe hereditary immunodeficiency. The frequency of the disease is no more than 1 case per 200,000 newborns. Children born with this pathology are isolated in polyethylene or plastic chambers with an absolutely sterile environment, so the Western press dubbed such patients "Bubble Boy". There are many variants of SCID. Some of them are inherited by the type of disorders linked to the X chromosome, one of the forms of SCID occurs due to deficiency of the enzyme adenosine deaminase.
The most famous of the "children in the bubble", David Vetter – VM.
It is very important to diagnose this syndrome early. Undiagnosed and untreated patients usually die in the first month of life. Bone marrow transplantation is a relatively effective method of treatment, but the chances of successful transplantation depend on the severity of many factors, including the infectious process and the physical development of the patient at the time of transplantation. Therefore, the development of innovative ways to treat virtually doomed patients invariably attracts the attention of the public.
Specialists from London's Ormondstreet Hospital performed gene therapy on 20 patients. In 4 out of 6 patients with adenosine deaminase enzyme deficiency and in 10 out of 10 children with X-linked TKID, the genetic defect was corrected; moreover, 67% of patients had basic enzyme therapy canceled, and now patients have been leading a full-fledged lifestyle for more than nine years.
Gene therapy, which is based on the principle of temporary introduction of functional genes into the cells of the patient's body, is today considered one of the most promising areas in medicine. The authors of the article state that the "generalized results described by them show a high level of safety and effectiveness of gene therapy and are an argument for the use of gene therapy as a first-choice treatment in patients who find it difficult to perform bone marrow transplantation."
News source: stem-cells.ru based on Medscape, Gene Therapy for Severe Combined ImmunodeficiencyPortal "Eternal youth" http://vechnayamolodost.ru