New Gene Therapy for Hereditary Maculopathy


Hope comes from the USA for those suffering from Hereditary Maculopathy such as Leber’s Congenital Amaurosis or Retinitis Pigmentosa in the form associated with mutation of both pairs of the RPE65 gene. The innovative drug for the treatment of these diseases is called Voretigene Neparvovec. It is able to repair the gene responsible for the disease and therefore stop the progressive loss of sight. The New drug is administered during a vitrectomy operation using a very thin needle under the retina. It is an adenoviral vector that contains a healthy copy of the RPE65 gene. After being infused under the retina, the new drug “infects” the cells of the pigmented epithelium by transferring the healthy RPE65 gene into them and thus stops the progression of the disease.

When is Gene Therapy for Maculopathy Useful?

Candidates for this therapy are patients with a mutation of both copies of the RPE65 gene, such as patients diagnosed with Leber’s Congenital Amaurosis or some forms of Retinitis Pigmentosa. There are other forms of Hereditary Maculopathy with alteration of the RPE65 gene. Usually the symptoms when both copies of the RPE65 gene are altered are as follows: night blindness (nyctalopia), loss of peripheral vision, blurry vision and nystagmus (uncontrolled eye movements). In any case, only genetic analysis can confirm the diagnosis. An essential condition for undergoing this therapy is that there are still functioning retinal cells. To understand if you are a candidate for this therapy, you need a thorough eye examination and a genetic analysis that confirms that both copies of the RPE65 gene are altered.

Where the New Maculopathy Therapy is available

Spark Therapeutics of Philadelphia is the company that developed this therapy, already authorized by the FDA (Food and Drug Administration) for clinical use in the USA.

The American Academy of Ophthalmology (Scientific Society of American Ophthalmologists) has released the first video testimonials from patients operated with this innovative treatment . Novartis is the company responsible for commercializing Voretigene in Europe. However, the drug, which is not yet on the market in Europe, has just obtained the favorable opinion of the Committee for Medicinal Products for Human Use (CHMP). The European Commission is expected to release its Marketing Authorization decision within two months.

The Novartis company states in its press release of November 23, 2018 that Voretigene should be reimbursed by the National Health Service between 2019 and 2020. There is therefore finally hope for those suffering from these serious diseases for which up to now no there was an effective cure. The treatment is now available in the USA however at extremely high costs. We hope it will be available in a few months in Europe and paid for by the National Health Service . We invite you to visit the Novartis website, Spark Therapeutics or for relevant updates.