S u m m a r y :
A young boy suffering from a genetic skin disease has been successfully treated with genetically modified (GM) stem cells that have come together to form skin. The findings are published in the journal Nature.
Children suffering from genetic skin disease known as epidermolysis bullosa are commonly called “butterfly children” because their skin is extremely fragile and delicate, just like butterfly wings—the genetic anomaly causes around 80% of their skin epidermis to be stripped away. No cure has yet been found, with existing therapies meant to heal patients not satisfying enough, and researchers are still trying to concoct the ideal treatment. The newest endeavour, on the other hand, has revolutionised research in this field as a 7-year-old Hassan has been successfully treated with transplants derived from GM stem cells, the feat achieved by a team from Ruhr-Universität Bochum’s burn unit and the Center for Regenerative Medicine at the University of Modena (Italy). The young patient went through the transplant 2 years ago, and now, he has fully integrated family and social life.
Meet the Butterfly Boy, Hassan
It all started as an experimental procedure whereby the Bochum medical team transplanted skin cells obtained from GM stem cells onto wounded areas of the boy. These wounds, together with blisters, appear as a result of even minor stress; skin is lost, and scars are formed. The quality of life of patients is greatly reduced. In more severe forms of the disease, internal organs might also be affected. The defect behind this condition lies in protein-forming genes that are involved in skin regeneration.
In Hassan’s case, the disease was life-threatening: he had lost 60% of his epidermis back in 2015 when he was admitted to the ICU at Katholisches Klinikum Bochum, and he was suffering from severe sepsis with high fever while his body weight was only 17 kilogrammes, according to study author Tobias Rothoeft. At that point, all therapy approaches had failed. So, Rothoeft and his colleagues took stem cells from Hassan himself via skin biopsy, and processed them. The intact gene was, then, transferred into acquired stem cells via retroviral vectors (viral particles). The resulting GM stem cells were cultivated in laboratory, and ultimately turned into transgenic transplants.
New Skin For Hassan
The transplants were applied to different parts of Hassan’s body:
- Entire back
“Overall, 0.94 square meters of transgenic epidermis were transplanted onto the young patient in order to cover all defects, accounting for 80 percent of his entire body surface,” says co-author Tobias Hirsch.
In the aftermath of the first transplant in 2015, Hassan’s condition started to improve. The transgenic stem cells had formed a new epidermis that had intact binding proteins. In the long run, the procedure proved to be stable.
Hassan is the first patient ever to have received treatment of skin transplants obtained from transgenic epidermal stem cells on such a large surface area.
“This approach has enormous potential for research into and development of new therapies for the treatment of epidermolysis bullosa as well as other diseases and trauma causing large skin defects,” says Tobias Hirsch.
Hassan Gets His Life Back!
And now, 2 years later, Hassan is attending school normally again; he has no scar contracture in any of the transplanted regions. Needless to say, the researchers are proud of their work!
“Transplanting 80 percent of the skin and providing intensive medical care to the patient over a period of eight months was extremely challenging,” say Tobias Rothoeft and Tobias Hirsch. “The close collaboration between the departments in Bochum and the University of Modena’s expertise have been the key to success. This makes us very proud.”