New form of therapy could avoid blindness in young people

New form of therapy could avoid blindness in young people

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Gene therapy is successful in the treatment of retinitis pigmentosa
The most common cause of blindness in young people is a condition called retinitis pigmentosa. Researchers have now discovered that a new form of gene therapy in young people can help treat this disease. Perhaps many cases of blindness can be avoided in the future.

Scientists from the internationally recognized University of Oxford found in an investigation that gene therapy can lead to successful treatment of a special form (XLRP) of retinitis pigmentosa. The doctors released a press release on the results of their study.

What is retinitis pigmentosa?
An inheritance or a spontaneously occurring mutation can cause a so-called retinal degeneration. With this disease, the photoreceptors are then damaged and destroyed. Retinitis pigmentosa is currently considered untreatable and leads to a slow and irreversible loss of vision, the experts explain. On March 16, 2017, a 29-year-old British man became the first patient to start a new form of gene therapy. The necessary surgery took place at Oxford Eye Hospital.

Scientists insert a copy of a gene into the cells
Gene therapy uses a virus to insert the correct copy of a defective gene into the cells. The results show that this therapy appears to be effective in treating genetic causes of blindness, the researchers report.

Gene therapy is particularly demanding at RPGR
Unfortunately, the gene that affects retinitis pigmentosa (RPGR) is very unstable. This means that gene therapy is particularly demanding, the doctors explain. The unusual genetic code of the RPGR gene made it very difficult for experts in the laboratory to work with it.

RPGR genetic code has been reprogrammed.
For this reason, the research team, led by Professor Robert MacLaren from the University of Oxford, reprogrammed the RPGR genetic code. This makes it more stable without affecting its functions, the scientists explain. This change makes it possible for the gene to be reliably released by a viral vector in retinal cells.

New sequence used is extremely effective in laboratory studies
"The effects of RPGR-related diseases on families with retinitis pigmentosa are devastating and we have spent many years developing this gene therapy," explains Professor MacLaren. Changing the genetic code is always done with great caution, but the new sequence used has proven to be very effective in the laboratory studies, the author adds.

Gene is very unstable and susceptible to mutations
The genetic code for all life on earth consists of four letters - G, T, A and C. However, with RPGR, half of the gene consists of only two letters - A and G, the researchers explain. This makes the gene very unstable and susceptible to mutations. These are a leading cause of blindness in patients with retinitis pigmentosa. RPGR is critical to the photosensitive cells on the back of the eye, doctors add.

More research is needed
We are happy to report the progress of this exciting gene therapy program in patients, say the experts. At least 24 patients are expected to participate in the current study to receive a single subretinal injection of RPGR gene therapy. If this treatment is successful, this gene therapy has the potential to change the lives of many patients (and their families) around the world, the authors add. The primary goal of the study is to assess the safety and tolerability of this gene therapy over a period of twelve months. (as)

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Video: Why FDA-backed gene therapy for rare form of blindness is revolutionary (July 2022).


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