First patient with hereditary deafblindness treated with new experimental gene therapy Possible prevention of blindness in hereditary deafblindness

For the first time in the Netherlands, a patient with hereditary deafblindness has received a new experimental gene therapy. The treatment took place at Radboudumc, the national center of expertise for Usher syndrome. With this therapy, doctors hope to prevent blindness in patients with this rare hereditary condition.

The treatment is part of an international clinical trial involving Radboudumc and two other Dutch gene therapy treatment centers, Amsterdam UMC and Het Oogziekenhuis Rotterdam.

Gradual blindness

Radboudumc is the only Dutch center of expertise for Usher syndrome, a form of deafblindness. One in 15,000 Dutch people suffer from this syndrome. People with Usher syndrome are born with hearing loss and are fitted with a hearing aid or cochlear implant. Children with Usher syndrome have good vision, but gradually become visually impaired and later blind during their lifetime. With this treatment, researchers hope to prevent blindness. In many cases, the disease is caused by a change in the USH2A gene. For specific changes in this gene, this experimental gene therapy was developed in part at Radboudumc.

Ronald Pennings (ENT specialist): “This is a goosebumps moment for our Radboudumc Usher expertise center: after years of scientific research, we are taking a major step forward in the treatment of retinal problems in people with Usher syndrome.”

Genetic patch in the eye

This is a treatment known as antisense oligonucleotide (AON) therapy. It involves injecting a kind of genetic ‘patch’ into the vitreous humor (the jelly-like substance in the eye). This patch recognizes the problem in the genetic material and ‘covers’ it, making it less harmful. This experimental treatment will be repeated every six months. After the treatment, the patient can go home immediately. The medical team will monitor the patient closely to see how the recovery progresses.

Safe and relatively simple

“The treatment is relatively easy to administer and safe,” says ophthalmologist Suzanne Yzer, who is conducting the treatment together with Niels Crama. "This therapy offers patients with this specific form of hereditary deafblindness hope of preserving their vision and thus maintaining their independence and quality of life.

Lotte (patient with Usher syndrome): “I am so happy that this trial is starting. It gives me and the entire Usher community hope for a treatment in the not too distant future.”

National center of expertise for Usher syndrome

Together with Prof. Ronald Pennings and Dr. Erwin van Wijk, Suzanne Yzer forms a research team focused on Usher syndrome. Among other things, the team has discovered part of the USH2A gene and developed this specific form of gene therapy. In addition to scientific research, patients are also seen by ophthalmologists and ENT specialists at the outpatient clinics. The center of expertise is in close contact with the patient association Stichting Usher Syndrome.

Erwin van Wijk, researcher specializing in Usher syndrome: “A great moment; after years of research, the first patient at Radboudumc is finally being treated with the genetic patch we developed.” It is a fine example of fruitful collaboration between different specialties and the patient.

Photo: The black spots (called bone bars) are visible in the damaged retina of a patient with Usher syndrome.

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