Gene therapies open very promising scenarios for the treatment of genetic blindness

Not so far ago, a patient that was clinically diagnosed with a retinal inherited dystrophy had to face an unavoidable outcome, eventual blindness. No effective treatment to cure or halt the progression of the disease was available. This gloomy perspective has been completely upturned by the implementation of cutting edge technologies, and the future looks promising for patients and their families.

  1. Next Generation Sequencing (NGS) has completely revolutionized genetic diagnosis of rare diseases. It offers reliable and quick analysis of the patient’s genes at an affordable price, securing the clinical diagnosis and prognosis, enabling genetic counselling and opening the door for precision medicine, customized to specifically restore the impaired molecular defect.
  2. Biotechnological advances are culminating after years of basic research to: i) generate cell and animal models with specific genetic modifications to study the molecular pathways involved in the visual function, in health and disease, ii) design and construct efficient therapeutic viral vectors, iii) develop efficient strategies for stem cell generation, and iv) unveil the therapeutic potential of nanotechnological materials.
  3. As a result, a considerable number of ground-breaking gene and stem cell therapy clinical trials are underway and their promising results far overcome the initial expectations, including in gene therapy all nucleic acid-based treatments, and in stem cell therapy, allogeneic and patient-derived iPSCs.

In the World Retina Week, the encouraging news is the approval of Luxturna, the first gene therapy product approved for an inherited visual disorder, as a commercial and available treatment for Leber Congenital Amaurosis and Retinitis Pigmentosa caused by RPE65 mutations. This is just the beginning of a new era, since more than 15 gene therapy clinical trials for several retinal disorders, such as X-linked Retinitis Pigmentosa, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) are currently being performed. Some of these clinical trials are listed in the following table.

*ProQR is developing a novel drug, sepofarsen (QR-110), for patients with LCA10 due to the p.Cys998X mutation, also known as c.2991+1655A>G mutation, in the CEP290 gene.

#Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of AGN-151587 (EDIT-101) in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene (“LCA10-IVS26”).


One of the most pressing issues for patients and families is how to access these therapies. Clinical trials enrol patients that fulfill several requirements, and interested patients and clinicians should get in contact with the hospitals and pharmaceutical companies that are conducting the trials to ask for their suitability.

On the other hand, Luxturna, a very costly treatment developed by Spark Therapeutics, is commercially available by Roche in the USA and Canada, and Novartis in Europe and the rest of the world. In the USA, the cost of the one-shot subretinal delivery amounts up to $850.000 per patient (two eyes).


What is the cost of Luxturna in Europe? Is this gene therapy supported by national health services?

The European Medicines Agency (EMA), the equivalent european institution to the U.S. Food and Drug Administration (FDA), granted the marketing authorisation of Luxturna in Europe, but decisions about price and reimbursement must take place at the level of each Member State.

In the United Kingdom, the National Institute for Health and Care Excellence (NICE) has just recently approved that the costs of this gene therapy will be covered by the National Health Service (NHS). The governments of Germany, France and Italy are also talking with Novartis to negotiate the price over a period of time and include Luxturna in their national service therapy portfolio for rare diseases.

Other European governments could be also negotiating with the company, but at the moment, no public information is available. Considering that the window frame for effective therapy in pediatric patients is small, time is of the essence.

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