MIT - Massachusetts Institute of Technology

Gene Therapy Offers Hope for “Worst Disease You’ve Never Heard Of”

Monique Roeder, 32, is participating in a clinical trial at Stanford University to test an experimental therapy for a rare, debilitating skin disease.

Monique Roeder looked like any other healthy baby, but when her tiny feet were pressed against a card for a souvenir birth certificate, it left behind blisters. Doctor recognized she had epidermolysis bullosa, a nightmarish disease that causes skin to be so fragile that it can flake off at the slightest touch.

Roeder, now 32, this year became part of a gene-therapy study at Stanford University in which bits of her skin were removed, genetically modified, and grown into iPhone-sized sheets. 

Surgeons then reattached the modified skin to cover her worst injuries, including a wound that had been open for 16 years and which has since closed shut. “To see that my skin was healed was just shocking,” Roeder says.

Epidermolysis bullosa has been called “the worst disease you’ve never heard of.” Its victims must bandage themselves and suffer unrelenting pain. In the Netherlands, which allows euthanasia, two children have been killed to stop their suffering.

Gene therapy offers a possible new way to treat the condition, which in Roeder’s case is due to a DNA mutation that prevents her body from producing type-7 collagen, the material that anchors the upper and lower layers of the skin together.

Gene therapies are in development to treat hemophilia, blindness, and other inherited diseases. In each case, a key challenge is getting the corrected genetic material to the right place in the body.

Roeder lives in Utah but traveled to California to take part in the study, which is led by Jean Tang and Peter Marinkovich, associate professors of dermatology at Stanford and principal investigators of the gene therapy trial, which reported its initial results in November.

Tang and her colleagues made two small punch holes in Roeder’s skin and extracted cells. They then used a virus to deliver a correct version of the type-7 collagen gene into her skin cells, which spent a few months in a laboratory growing into small sheets, six of which were then grafted onto her skin.

Roeder spent a week in a hospital bed with bandages over the areas where the skin grafts were placed. When the bandages came off, healthy skin had already started to form in the place of red, scaly blisters, she says. Roeder and other patients reported that the skin grafts have allowed them to do everyday tasks, like getting dressed, with less pain and discomfort. A rare-disease biotechnology company, Abeona Therapeutics, has licensed the idea from Stanford.

Tang has treated six adult patients so far and says the benefits wear off after about a year as the body naturally sheds cells. She says patients would likely have to get the treatment every two to three years. Her team will next start enrolling teenagers and eventually children with the skin disorder. People with the disease often develop skin cancer and die at a young age because of persistent skin infections.

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