Radboudumc treats first Dutch patient with ‘Genetic Patch’ for inherited blindness Experimental gene therapy offers hope for people with the rare eye disease LCA

Radboudumc has, for the first time in the Netherlands, treated a 10 year old patient with a new experimental gene therapy targeting a specific form of the inherited eye disease Leber congenital amaurosis (LCA). This condition causes severe visual impairment from birth and can eventually lead to blindness. A small piece of modified genetic material is injected into the eye. This material helps “to mask” the genetic DNA defect. The aim of the therapy is to prevent blindness. The treatment is part of an international clinical study, in which Radboudumc is the only  involved center for this gene therapy in the Netherlands.

This new form of experimental therapy is specifically designed for patients with certain mutations in the CEP290 gene, which are relatively common in this disease. It involves a so called antisense oligonucleotide (AON) therapy which essentially is a type of “genetic patch” that is injected into the vitreous gel of the eye. This patch recognizes the defect in the genetic material and “masks” it, thereby reducing its harmful effects. The experimental treatment is administered every six months. After the injection, the patient can return home immediately while the medical team will closely monitor recovery.

Safe and relatively straightforward

“The treatment is safe and relatively simple to administer,” says ophthalmologist Suzanne Yzer, who, together with Niels Crama, treats these patients. “This therapy offers patients with this type of LCA a new opportunity. We hope that their vision will remain stable, or even improve slightly. This can make a significant difference in a person’s independence and quality of life.

Preserving vision, not improving it

The aim of the treatment is not to restore vision, but to prevent further deterioration. If the therapy proves effective, visual function will be maintained at its current level, which for patients may determine whether they are able to function independently. This study may also pave the way for future AON treatments for other inherited eye diseases. The technology has broader potential than this specific form of LCA alone.

What is Leber congenital amaurosis (LCA)?

Leber congenital amaurosis is the most severe form of inherited retinal disease. People with LCA are born with severe visual impairment, which often leads to blindness. LCA is rare, occurring in the Netherlands in about 2 to 3 per 100,000 births. There are several genetic causes of LCA, but mutations in the CEP290 gene account for approximately 20% of cases. Newly diagnosed patients with this form of LCA in the Netherlands may benefit from this therapy if its effectiveness is confirmed.

Radboudumc as a leader in gene therapy for inherited eye diseases

Radboudumc has a long history in gene therapy for inherited eye disorders. A previous gene therapy for patients with mutations in the RPE65 gene has already proven effective. This treatment is currently offered at three Dutch expertise centers: Radboudumc, Amsterdam UMC, and the Rotterdam Eye Hospital.

Radboudumc also plays a key role in this new AON therapy. Disease causing mutations in the CEP290 gene that result in this form of LCA were discovered at Radboudumc in 2006. The AON therapy itself was also developed at Radboudumc.
 

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