“It’s no wonder that truth is stranger than fiction. Fiction has to make sense” – Mark Twain
Quite often we come across news that leaves us bewildered and at a loss for words. A particular News from April 2019, fits that description perfectly and describes an unbelievable event – doctors have used HIV in gene therapy to cure “Bubble Boy” disease. Now not many people would be knowing about Bubble Boy disease, and certainly very few people do understand the nitty-gritty of gene therapy; but there would be hardly anybody in the world, whose soul does not shudder at the thought of HIV infection, the virus that causes AIDS.
HIV infection has emerged in the modern world, as one of the greatest killers of mankind, the black plague of the new age. Now using this scourge of mankind, as a blessing is something that has been indeed made possible by a few dedicated scientists.
For the uninitiated, a basic knowledge of gene therapy would be certainly useful before we delve deeper into the news in the discussion. Gene therapy is a very fast evolving experimental technique, that uses genetic manipulation to treat or prevent disease. In the future, this rapidly evolving therapy is expected to treat patients, by introducing a gene into a person’s cell instead of subjecting him/her to surgery or even medications.
Scientists who are dedicatedly working to explore new avenues for applying gene therapy believe they have a multitude of approaches to do their job. Some of the important approaches are – 1) Replacing an altered and defective gene that causes diseases, with a healthy version of the gene. 2) Silencing or Removal of a defective gene that is not working properly. 3) Inserting a new gene into the human body, which would allow the body to fight against certain illness. In spite of all the high expectations associated with it, gene therapy at present remains prone to serious side effects & is only used for diseases that do not have any other satisfactory treatment at present.
Bubble Boy disease is the common and shorter name for the scary disease – Severe Combined Immunodeficiency or SCID. It is an immunodeficiency disease that creates a weak immune system, which is unable to fight even the mildest of infections. This extremely rare genetic disorder (affects 1 in 200,000 new-borns, mostly males) is caused due to multiple possible genetic mutations, which ultimately affects the development of functional T lymphocytes and B lymphocytes.
B lymphocytes and T helper cells, are an integral part of the human immune system and is needed for the natural immune response. The end result of the combined absence of both B lymphocyte and T lymphocyte function, which occurs in Severe Combined Immunodeficiency, gives rise to a severe primary immunodeficiency condition, which is potentially fatal. The person suffering from Severe Combined Immunodeficiency, develops extreme susceptibility to various kinds of infections which can ultimately lead to their death. So, for all practical purpose, in SCID the immune system can be considered to be almost absent.
The most common treatment for Severe Combined Immunodeficiency is bone marrow transplantation. There has been a considerable success in treating this condition by using bone marrow transplantation from a matched donor, who may or may not be related. Transplants usually done in the first 3 months of life give a much higher success rate. However, transplant procedures are medically risky and it is hard to get a suitable donor.
Gene therapy is rather a new experimental procedure being developed for the treatment of Severe Combined Immunodeficiency. Introduction of the missing gene, into the blood-forming stem cells by using virus (modified & refined), has been one of the popular methods used in gene therapy for Severe Combined Immunodeficiency or Bubble Boy Disease.
Severe Combined Immunodeficiency is also known as bubble boy disease or bubble baby disease, as the patients suffering from this condition are very susceptible to infectious disease and many of them have lived for an extended period of time in an artificial sterile environment. David Philip Vetter was one of such unfortunate patients, who was born with Severe Combined Immunodeficiency but shot into prominence for his courageous attitude & indomitable spirit in spite of living in a complex containment system, which at the time was used as an integral part of the management of SCID.
David Phillip Vetter (September 1971 to February 1984) held the world’s attention for 12 years, because of his stay in the protected environment (The Bubble), specially created in Texas Children’s Hospital in Houston, Texas; which maintained a relatively germ-free environment. Food, air, water, and clothes were sterilized before they were introduced into the sterile chamber. David Vetter himself was touched only through special gloves, attached to the walls of the chamber.
In 1977 researchers developing space suits for NASA, developed a special suit for him, that would allow Vetter to get out of his bubble and walk in the world outside. The bubble had a great role to play, for ensuring the child’s survival for 12 years. Unfortunately, the brave heart ultimately succumbed to cancer (Burkitt’s lymphoma) in 1984, four months after receiving a bone marrow transfusion.
The above news flashed throughout many media outlets across the world mainly for 2 reasons. Although Bubble Boy disease is a rare disease, its treatment creates multiple challenging situations, both for the patients and the doctors even in the 21st century. Secondly, using a devastatingly dangerous virus like – HIV, which is the immune system’s worst enemy, for a treatment purpose, in reversing a condition of immunodeficiency is nothing less than a miracle.
It seems that 8 children suffering from Bubble Boy disease have been cured by gene therapy, using altered HIV, as a recent study published by the New England Journal of Medicine has shown. The children were treated at St. Jude Children’s Research Hospital in Memphis and at UCSF Benioff Children’s Hospital San Francisco.
For the experimental procedure, altered HIV was used to deliver a gene into the children, that cured them of Bubble Boy disease. The results became apparent within a very short span. Healthy immune cells formed and reached normal levels within a few months in 7 boys. Although the 8th patient needed a second dose of gene therapy, since then he appears to be cured too. All the children have at present fully functional immune systems. Care was taken to ensure that the altered HIV used, would not cause any disease like AIDS like it normally does. No major side effects of the procedure have been noted.
Most doctors believe that although the children have been cured of their disease, but long-term observations are required to know more about the durability of the results. If successful results like these are replicated in the future, the technology may be used to treat many other health disorders. The above study goes on to prove how the recent advances of modern medicine, can turn even a dangerous virus like HIV into a marvelous tool for miracle cure of the rare and hopeless condition. It seems, in this strange world created by God, everything can be put to good use if rightly applied.