A feel good story about a new (but very expensive) treatment to reverse scarring on the cornea caused by a flaw in a gene required to produce collagen. According to the article:
The patient is Antonio Vento Carvajal who was born with dystrophic epidermolysis bullosa causing flaws in the gene responsible for producing collagen 7, a protein that holds layers of the skin together. Scarring on his corneas had accumulated over time, causing his vision to deteriorate so much that he did not feel safe walking around.
Mr Carvajal participated in a clinical trial testing the topical gel for EB-related skin lesions with much success. His doctor Alfonso Sabater, encouraged by Antonio’s progress, posited that the gel which used a deactivated herpes virus to deliver working copies of a collagen-producing gene could be reconfigured as eye drops – and he was right.
The patient’s eyes recovered from the latest round of surgery and, with the help of the drops, his vision has been restored to near perfection.
The article explains:
Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa that hampers the production of collagen encoded in the COL7A1 gene. Roughly 3,000 people in the world have it.
Collagen makes up the skin’s anchoring fibrils, or special structures in the skin and other tissues that act like strong glue to hold the outer layer of the skin – the epidermis – together with the layer beneath called the dermis.
Without a fully functioning COL7A1 gene, the connection between both layers of the skin becomes weaker, making them exceedingly fragile to the point where the slightest bit of friction can lead to blisters and open sores vulnerable to infection.
Those same anchoring fibrils in the skin also reside in the cornea, the transparent part of the eyeball. People with DEB who have a faulty collagen-producing gene also lack that crucial connective tissue between layers of the cornea, making painful abrasions and a build-up of scar tissue more likely.
According to the article, a topical gel had been developed to treat skin lesions resulting from DEB, which introduces the correct gene via a virus. The treatment involves using "an inactive herpes-simplex virus type 1 (HSV-1) as the viral vector - a genetically modified virus that is used to deliver therapeutic genes to the patient's cells - because it has more space on its genome compared to other vectors to ferry large DNA sequences." Also, "HSV is also highly efficient at entering cells and delivering its genetic material."
The article goes on to relate that the boy's doctor was aware of the therapy's success in treating skin lesions and thought it might also work on eye conditions. He approached the manufacturer, Krystal Biotech, which reconfigured it so it could be safely delivered into a patient's eyes.
That was probably worth the risk.
ReplyDeleteYes. A good outcome.
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