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Sufferers with extreme dystrophic epidermolysis bullosa, or EB, have pores and skin so fragile, the slightest contact can result in blistering and, ultimately, massive, open wounds that by no means heal, inflicting immense ache.
A therapy developed at Stanford Medication, pores and skin grafts, can deal with these massive, open wounds. Genetically engineered from a affected person’s personal cells, the grafts had been granted approval as an EB remedy on April 29 by the U.S. Meals and Drug Administration.
“I’m super excited,” Jean Tang, MD, Ph.D., professor of dermatology mentioned, noting that the grafts are the product of greater than 20 years of Stanford Medication analysis. Tang treats youngsters with EB at Lucile Packard Youngsters’s Hospital Stanford. “Who would have thought that an experiment in a Stanford lab would lead to a personalized therapy for EB patients?”
We spoke with Tang concerning the illness, the analysis that led to the therapy and hope for sufferers with the situation.
What’s dystrophic epidermolysis bullosa?
Extreme dystrophic epidermolysis bullosa is a uncommon genetic situation affecting 1 in each 500,000 individuals. These with the illness have a defect within the gene for collagen VII, a protein that usually holds the pores and skin collectively.
Collagen VII is sort of a staple that attaches the highest layer to the underside layer of your pores and skin. With out this molecular “staple,” the layers of sufferers’ pores and skin separate in response to slight friction, even a lightweight contact. This causes wounds that may persist for years, together with excessive ache and itching.
These youngsters are wrapped in wound dressings nearly from head to toe, simply to guard their delicate pores and skin. They’re often called butterfly-skin youngsters as a result of their pores and skin is as fragile as butterfly wings.
The injuries are liable to an infection, and even bathing is painful. Due to the unhealed wounds and irritation, EB sufferers are at excessive danger for pores and skin most cancers.
Different elements of the physique are additionally affected, as collagen VII helps maintain layers of the digestive tract and eye collectively, however the pores and skin issues are probably the most tough facet of the illness to reside with.
Describe the analysis that has led to the pores and skin grafts receiving approval by the FDA.
In 2003, Paul Khavari, MD, Ph.D., the Carl J. Herzog Professorship in Dermatology within the Faculty of Medication, and his staff developed a protected and efficient strategy to genetically engineer EB pores and skin cells with a corrected gene. The staff confirmed that the ensuing pores and skin may very well be grown into small sheets that had practical collagen VII and may very well be safely grafted to mice.
This work led, over the subsequent 20 years, to Stanford Medication research that developed gene remedy pores and skin grafts for individuals, together with a section 1 scientific trial led by Alfred Lane, MD, now emeritus professor of dermatology, and Peter Marinkovich, MD, affiliate professor of dermatology, which confirmed early indicators of security and effectiveness of the gene-therapy grafts and was revealed in 2016.
Our staff additionally performed a number one function within the final section of scientific trials, with outcomes that we’re wanting ahead to sharing when they’re revealed.
The therapy was then licensed from Stanford College by Abeona Therapeutics Inc., which can manufacture grafts for sufferers. The grafts will probably be accessible at 5 hospitals throughout the nation, together with Packard Youngsters’s.
How do the grafts work?
To make the pores and skin sheets, that are grown individually for every affected person, a doctor collects a small biopsy of the affected person’s un-wounded pores and skin. The biopsy is taken to a lab, the place a retrovirus is used to introduce a corrected model of the collagen VII gene, COL7AI, to the pores and skin cells. The genetically engineered cells are grown into sheets of pores and skin which can be concerning the dimension of a bank card. The method of making ready the grafts takes about 25 days, after which sufferers go to the hospital and our plastic surgeons suture the genetically engineered pores and skin onto a wound.
Sufferers keep within the hospital for a few week of restoration. As a result of every graft is created from the affected person’s personal pores and skin, the therapy offers wholesome pores and skin that matches the sufferers’ personal immune markers, stopping immune rejection of the grafts.
What are individuals saying concerning the grafts?
Contributors in our scientific trials have informed me simply how a lot of their life and a spotlight span had been centered on these painful wounds. To not have that could be very liberating. Their wounds keep healed, and so they do not should put on as many bandages. They will attend faculty and do different on a regular basis actions extra simply.
If these sufferers are recognized as infants and begin one other gene remedy product, a gene remedy gel that was accepted in 2023, perhaps they will not develop large wounds. But when the gels do not work and a wound does broaden, the pores and skin graft remedy is the appropriate therapy. The arc of their illness will, I hope, be modified, with much less struggling.
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Q&A: Twenty years of analysis result in therapy for uncommon, painful pores and skin situation (2025, Might 3)
retrieved 3 Might 2025
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