In a recent study published in Nature, researchers attempted a new therapy using stem cells on a 7-year old boy with epidermolysis bullosa.
Epidermolysis bullosa (EB) is a genetically inherited disease that causes blistering and extreme skin frailty. Small skin agitations are enough to cause patches of skin to slough-off which can lead to frequent life-threatening infections. Individuals suffering from EB are reminded of their disease every day through painful skin care redressing which can cost upwards of $100,000 USD per year.
While epidermolysis bullosa can be managed through frequent blister drainage and active skin care pre-cautions, children suffering from epidermolysis bullosa commonly develop chronic anticipatory anxiety, depression, behavioral problems, and reduced quality of life from the constant pain and redressing routines.
In a recent case study reported in Science Magazine, researchers sought to treat EB in a 7-year old boy using a novel stem cell therapy. EB is typically caused by a genetic mutation within one or multiple genes that are responsible for linking outer skin layer (epidermis) to the inner skin layer (dermis). The young boy from Germany was diagnosed by clinicians to have a particularly severe form of junctional EB, in which he lacked a protein necessary to adheres the two skin layers.
Researchers obtained a clean patch of skin from the boy’s groin, about the size of a Canadian loonie, and genetically altered the skin stem cells to produce the necessary protein. After several clinical safety checks, the corrected stem cells were grafted back onto the boy’s body in two surgeries to cover his arms, legs, back, and chest.
After one month of recovery, researchers found new healthy skin beginning to form with zero blistering in the grafted areas. Though most of the cells grafted died early on, researchers observed the surviving stem cells spreading throughout the boy’s body forming almost entirely healthy skin by eight months.
The early results from this case study show stem cell therapy is a highly viable option for treating patients with EB. However, the researchers warn that while the study was successful in this trial, it is not yet ready for many EB cases. The majority of EB cases are caused by a single gene mutation, though many are caused by multiple gene mutations which make it much more difficult to correct. Fortunately, scientists hope to bypass these issues using CRISPR genome editing, which has already shown promise in correcting multiple genome mutations at once.
While this trial shows remarkable success in treating skin symptoms of EB patients, it can’t treat the internal damage caused by EB which limits it from being a “cure”. Nonetheless, biotechnology companies are currently working with the researchers of this study to investigate stem cell therapy further on a larger group of EB patients.
Written by Aaron Kwong, MSc
(1) Servick, Kelly. A boy with a rare disease gets new skin , thanks to gene-corrected stem cells. 8 November 2017. http://www.sciencemag.org/news/2017/11/boy-rare-disease-gets-new-skin-thanks-gene-corrected-stem-cells
(2) Puvabanditsin S, Mehta R, McConnel JA, Gengel NK, Mayne J, Walzer L. Pediatric Epidermolysis Bullosa Treatment & Management. 7 February 2017. https://emedicine.medscape.com/article/909549-treatment
(3) Epidermolysis Bullosa. SickKids. http://www.sickkids.ca/Dermatology/What-we-do/Epidermolysis-bullosa/index.html