Researchers Use Patients’ Own Skin Cells to Treat This Rare Disease

With gene therapy, patients suffering from a rare skin disease now have a better chance of living beyond the young age of 30.

Skin Cells Gene Therapy

Epidermolysis Bullosa. You immediately think it’s a disease. You might even correctly theorize — based on the ‘epiderm’ part — that it’s a skin disease. What you probably won’t be able to guess is how serious and rare the disease is. And surely, you can’t imagine how difficult it is for a person who has this disease to live a normal life.

Epidermolysis Bullosa or EB is a rare hereditary disease characterized by layers of skin not adhering together properly such that any minor trauma or friction easily causes tears and blisters. In short, it’s having extremely delicate skin that blisters at the slightest bump, injury or scrape. In extreme cases, blisters may also occur within the body, affecting internal organs and different body systems.

EB is caused by a defective gene that is supposed to produce collagen — the protein responsible for making skin layers attach to each other. The defect lies in the faulty collagen it makes — it makes skin layers slide against each other instead of adhere to each other, and this is what causes the blistering.

Just like cancer, EB can afflict anybody, regardless of age, gender and race, though it usually appears at birth or in early childhood. Children born with the disease are referred to as ‘butterfly children’ — because their skin is as fragile as a butterfly’s wings. It’s an extremely painful disease — aptly called ‘the worst disease you’ve never heard of’ — because a blister or lesion can become enlarged in a few minutes, causing infection that can get serious very quickly.

To minimize the effects of the disease, the focus of treatment is on relieving symptoms like itching and wounds, and preventing infection. But those are just temporary fixes. So far, EB does not have a definitive cure.

According to DEBRA International (Dystropic Epidermolysis Bullosa Research Association), EB can theoretically be cured via gene therapy (supplying the correct gene that is capable of making the missing protein); protein therapy (supplying the missing protein); cell therapy (supplying cells that carry the correct gene); or siRNA, also known as small molecule drugs that can ‘remove the faulty protein, and/or provide alternative compensatory proteins, or modify the skin microenvironment.’

Among these four potential treatments, it’s gene therapy that is being used on a patient named Monique Roeder — a 32-year old female who was born with EB. It was only this year when she started participating in a gene therapy study being conducted by researchers at the Stanford University. And it seems her life is now changing.

To treat Roeder’s EB, parts of her skin were removed, modified genetically, then grown into iPhone-sized sheets. These sheets were then used to cover her most serious injuries, including an open wound that has remained as is for 16 years, and which only closed shut after her modified skin was placed over it.

Travelling from Utah (her home) to California (where the study is being conducted) so far seems to be worth the effort. As reported in MIT Technology Review, Roeder (along with other patients participating in the study) have happily confirmed that the skin grafts they received have enabled them to perform daily tasks without feeling as much pain and discomfort as they have been so used to.

According to Jean Tang — one of the lead investigators of the study and an associate professor of dermatology at Stanford — they have treated six patients up to this point, and the benefits of the treatment seem to wear off after a year. Accordingly, patients would likely need to repeat the treatment every two to three years to continue to be effective.

It’s a much better alternative than developing even more serious diseases like skin cancer and dying at an early age due to widespread skin infections.

Gene therapy has also been used in the successful treatment of a variety of diseases including Severe Combined Immune Deficiency (SCID), Adenosine deaminase (ADA) deficiency, hereditary blindness, hemophilia, blood disease, fat metabolism disorder, cancer and Parkinson’s disease.

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