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Two decades of research lead to treatment for rare, painful skin condition

May 3, 2025
in Diseases
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Credit score: Unsplash/CC0 Public Area

Sufferers with extreme dystrophic epidermolysis bullosa, or EB, have pores and skin so fragile, the slightest contact can result in blistering and, finally, giant, open wounds that by no means heal, inflicting immense ache.

A remedy developed at Stanford Drugs, pores and skin grafts, can deal with these giant, 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 am tremendous excited,” Jean Tang, MD, Ph.D., professor of dermatology stated, noting that the grafts are the product of greater than 20 years of Stanford Drugs analysis. Tang treats youngsters with EB at Lucile Packard Kids’s Hospital Stanford. “Who would have thought that an experiment in a Stanford lab would result in a personalised remedy for EB sufferers?”

We spoke with Tang concerning the illness, the analysis that led to the remedy 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 folks. 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 children are wrapped in wound dressings virtually from head to toe, simply to guard their delicate pores and skin. They’re generally known as butterfly-skin youngsters as a result of their pores and skin is as fragile as butterfly wings.

The injuries are susceptible 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 components 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 essentially the most tough side 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 Drugs, and his crew developed a protected and efficient option to genetically engineer EB pores and skin cells with a corrected gene. The crew confirmed that the ensuing pores and skin could possibly be grown into small sheets that had practical collagen VII and could possibly be safely grafted to mice.

This work led, over the subsequent 20 years, to Stanford Drugs research that developed gene remedy pores and skin grafts for folks, together with a part 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 crew additionally performed a number one function within the final part of scientific trials, with outcomes that we’re trying ahead to sharing when they’re revealed.

The remedy was then licensed from Stanford College by Abeona Therapeutics Inc., which is able to manufacture grafts for sufferers. The grafts will probably be out there at 5 hospitals throughout the nation, together with Packard Kids’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 might 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 remedy supplies wholesome pores and skin that matches the sufferers’ personal immune markers, stopping immune rejection of the grafts.

What are folks saying concerning the grafts?

Individuals in our scientific trials have advised me simply how a lot of their life and a spotlight span had been targeted on these painful wounds. To not have that could be very liberating. Their wounds keep healed, they usually do not must put on as many bandages. They will attend college and do different on a regular basis actions extra simply.

If these sufferers are identified as infants and begin one other gene remedy product, a gene remedy gel that was accepted in 2023, possibly they will not develop large wounds. But when the gels do not work and a wound does develop, the pores and skin graft remedy is the appropriate remedy. The arc of their illness will, I hope, be modified, with much less struggling.

Offered by
Stanford College

Quotation:
Q&A: 20 years of analysis result in remedy for uncommon, painful pores and skin situation (2025, Could 3)
retrieved 3 Could 2025
from https://medicalxpress.com/information/2025-05-qa-decades-treatment-rare-painful.html

This doc is topic to copyright. Other than any truthful dealing for the aim of personal research or analysis, no
half could also be reproduced with out the written permission. The content material is supplied for data functions solely.



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