The treatment is part of an international clinical study, in which Amsterdam UMC is also involved as a Dutch treatment center for gene therapy. Also doctors Amsterdam UMC perform this operation soon.
Gene therapy
A new form of experimental gene therapy has been developed specifically for the RPRG gene. The experimental treatment consists of an operation under anesthesia. The drug, which consists of a non-pathogenic virus with a properly functioning RPGR gene, is injected under the retina. This well-functioning gene must replace the diseased gene on the spot. The patient can go home after the procedure and return the next day for a check-up. In the period after the procedure, the patient remains under the supervision of the clinical research team to monitor the progress.
Retinal disorders
It is expected that through this therapy, the disease will remain stable or possibly improve. With this new gene therapy, the doctors and researchers hope to eventually be able to treat the cause of this form of RP, thereby guaranteeing the independence and independence of patients with good vision. This study may also open doors to treatments for other inherited retinal disorders.
Retinitis pigmentosa
This specific form of retinitis pigmentosa (XLRP-RPGR) leads to blindness. It mainly occurs in men, because the cause lies on the X chromosome. In principle, one normally functioning RPGR gene is sufficient to prevent the disease from developing. Women can also get the disease, but it is less common. Affected individuals can see well as children, but slowly become visually impaired and blind later. One in three thousand Dutch people suffer from a form of retinitis pigmentosa. In 10 to 20 percent of cases, the disease is caused by a change in the RPGR gene, the gene for which this experimental gene therapy is intended. Gene therapy for patients with another congenital form of retinitis pigmentosa due to genetic defects in another gene, the RPE65 gene, has already been proven to be effective.
