Boy with rare dis­ease gets brand new skin with gene ther­apy

The Telegram (St. John’s) - - PERSPECTIVES - BY MARIA CHENG

Doc­tors treat­ing a crit­i­cally ill boy with a dev­as­tat­ing skin dis­ease used ex­per­i­men­tal gene ther­apy to cre­ate an en­tirely new skin for most of his body in a des­per­ate at­tempt to save his life.

Two years later, the doc­tors re­port the boy is do­ing so well that he doesn’t need any med­i­ca­tion, is back in school and even play­ing soc­cer.

“We were forced to do some­thing dra­matic be­cause this kid was dy­ing,” said Dr. Michele De Luca of the Univer­sity of Mo­dena in Italy, who got a call for help from the Ger­man doc­tors treat­ing the boy.

The boy, then 7, was hos­pi­tal­ized in June 2015 with blis­ters on his limbs, back and else­where. He quickly lost about 60 per cent of the outer layer of his skin and was put into an in­duced coma to spare him fur­ther suf­fer­ing. Doc­tors at Chil­dren’s Hos­pi­tal at Ruhr Univer­sity in Bochum, Ger­many, tried skin grafts from his fa­ther and donor skin, but all failed.

“He was in se­vere pain and ask­ing a lot of ques­tions,” the boy’s fa­ther said in a video pro­vided by the hos­pi­tal “Why do I suf­fer from this dis­ease? Why do I have to live this life? All chil­dren can run around and play, why am I not al­lowed to play soc­cer? I couldn’t an­swer these ques­tions.”

The boy’s par­ents asked about ex­per­i­men­tal treat­ments, and De Luca and his col­leagues were con­tacted. They had pre­vi­ously used gene ther­apy to pro­duce a small piece of skin in a sim­i­lar case. They told the fam­ily that the boy’s pre­car­i­ous state meant that he might not sur­vive the com­pli­cated surg­eries needed to save him.

“It was a tough de­ci­sion for us, but we wanted to try for (our son),” the boy’s fa­ther said. The fam­ily asked that their names not be used to pro­tect the boy’s pri­vacy.

The boy had a rare, in­cur­able skin dis­ease called junc­tional epi­der­mol­y­sis bul­losa, caused by ge­netic mu­ta­tions. Peo­ple with the dis­ease lack crit­i­cal pro­teins that at­tach the outer layer of the skin to the in­ner layer, re­sult­ing in frag­ile skin with al­most con­stant blis­ters and open sores.

To fix that, the doc­tors took a small piece of the boy’s skin

from an area that was OK. In the lab, they added a nor­mal ver­sion of his bad gene to his skin cells. They grew sheets of the boy’s skin, in much the same way skin grafts are grown for burn vic­tims.

In to­tal, they grew close to a square me­ter of skin (9 square feet.) The lab-grown skin was then trans­planted onto the boy

in three op­er­a­tions, ul­ti­mately cov­er­ing 80 per cent of his body. Ten days later, the new skin was al­ready be­gin­ning to grow, De Luca said. After eight months, the doc­tors said that nearly all of the boy’s skin had been gen­er­ated by the mod­i­fied stem cells.

So far, no prob­lems have been de­tected. De Luca said the boy will be mon­i­tored closely for skin cancer and other po­ten­tial is­sues.

“This kid is back to his nor­mal life again,” one of the Ger­man doc­tors, Dr. To­bias Rothoeft, said Wed­nes­day. “That’s what we dreamed of do­ing and it was pos­si­ble.”

De­tails of the case were pub­lished Wed­nes­day in the jour­nal Na­ture.

“This takes us a huge step for­ward,” said Dr. Peter Marinkovich of Stan­ford Univer­sity School of Medicine, who has done re­lated work. He said it was im­pres­sive that De Luca and col­leagues were able to make such large amounts of vi­able skin after cor­rect­ing the ge­netic de­fect.

But he noted the ap­proach might not help in more se­ri­ous cases, which of­ten have tricky com­pli­ca­tions, like skin blis­ter­ing in the lungs. Marinkovich said many pa­tients don’t sur­vive be­yond age 2 and that us­ing the treat­ment for ba­bies could be even riskier.

Dr. Holm Sch­nei­der warned that some se­verely ill pa­tients might have an ex­treme re­ac­tion to skin trans­plants with an added gene.

“The im­mune sys­tem might rec­og­nize this new gene as some­thing for­eign to be at­tacked and de­stroyed,” said Sch­nei­der, of the Univer­sity Hos­pi­tal Er­lan­gen in Ger­many. Still, he said the ap­proach was worth try­ing in dy­ing pa­tients.

The boy and his fam­ily later vis­ited De Luca and the other Ital­ian doc­tors in­volved in his treat­ment.

“The par­ents are very grate­ful and say their life has com­pletely changed,” De Luca said, re­call­ing how the boy spon­ta­neously be­gan tak­ing off his clothes. “The boy was so happy with his new skin that he wanted to show off.”

This As­so­ci­ated Press se­ries was pro­duced in part­ner­ship with the Howard Hughes Med­i­cal In­sti­tute’s Depart­ment of Science Ed­u­ca­tion. The AP is solely re­spon­si­ble for all con­tent.

FRANK JACOBSEN/RUHR UNIVER­SITY BOCHUM VIA AP

Tech­ni­cians at Ruhr Univer­sity hos­pi­tal lift up a sheet of hu­man skin cells cre­ated at the Cen­ter for Re­gen­er­a­tive Medicine at the Univer­sity of Mo­dena in Italy.

FRANK JACOBSEN/RUHR UNIVER­SITY BOCHUM VIA AP

A sheet of skin cells cre­ated at the Cen­ter for Re­gen­er­a­tive Medicine at the Univer­sity of Mo­dena in Italy. Doc­tors trans­planted that sheet and many oth­ers onto a crit­i­cally ill boy in Ger­many after adding a cor­rected ver­sion of a gene re­spon­si­ble for his dis­ease.

A sheet of hu­man skin cells.

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