Study: A Dying Boy Has Been Saved Through Gene Therapy

Study: A Dying Boy Has Been Saved Through Gene Therapy

Gene therapy has been used before in treating burn victims, but this case of a 7-year old boy is very intriguing. Doctors in Europe have saved his life using gene therapy.

The boy suffered from a genetic disorder called junctional epidermolysis bullosa, and had nine square feet of his body surface covered in blisters, tears, all the surface being prone to infections and skin cancer.

The Boy Had No Chance at Survival, But He Recovered

It’s been two years after his therapy and he is a healthy child that has healthy skin and can lead a normal life.

There are 500,000 people that suffer from this condition, with 25,000 people in the US. Not all cases are this severe, but patients must wear bandages and are in severe pain.

The executive director of a group that supports these cases (Debra), has a daughter that suffers from this disease and it costs him over $500,000 per year to change her special dressings.

The Dr. Jouni Uitto (Sidney Kimmel Medical College, at the Thomas Jefferson University in Philadelphia), who is the chairman of the dermatology and cutaneous biology department, admitted that the boy has seen an incredible transformation. He is also suggesting that this case has been a success, but they must see if a further application of gene therapy in this case is a complete solution.

The disease can damage internal tissue too, such as the urinary tract or the lining of the esophagus and gene therapy cannot repair them.

However, the associate professor of dermatology at the Stanford University School of Medicine, Dr. M. Peter Marinkovich was highly impressed by such an advancement in the boy’s case. He too has tried gene therapy in treating small areas of skin for people with other diseases, but had various responses.

The Boy’s Case So Far

Since birth, the boy has suffered from blisters on his body and in 2015 his skin contracted bacterial infections that affected two thirds of his skin. He was on morphine for his pain and later sent to the burn unit, in Germany, at the Children’s Hospital, Ruhr University in Bochum.

His body was covered in raw and reddened flesh. Doctors treated him with antibiotics, bandages, a special diet and skin transplant from his father, but there were no results.

While searching for a way to relief the boy’s pain, doctors found Dr. Michele De Luca, who is the director of the Center for Regenerative Medicine Stefano Ferrari at the University of Modena and Reggio Emilia in Modena, Italy. He had previously treated small patches of skin on his patients with this disease by using skin grafts that they grew. Dr. De Luca called this case ‘a compassionate use’ of experimental therapy that they used only in clinical trials.

But between letting the child die and trying to save his life, doctors chose the latter. They sent a small piece of skin to Modena and Dr. De Luca genetically engineered the cell and created a virus which was introduced in the mutated gene in his DNA so that they could transform it into a normal gene. Afterwards, the engineered cells were grown into sheets of skin and sent back to Germany.

After several surgical procedures, the boy had a new skin on 80% of his body.

This therapy is also dangerous, as it can activate dangerous side effects such as turning off an essential gene or causing cancer. But analyses turned out to be alright, as the boy underwent all the procedures. It took eight months, with more than half of the time keeping the boy in a medically induced coma to feel no pain.

Several weeks before Christmas, the boy woke up and had a new healthy skin!

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