Genetic Lottery

As this issue showcases, the field of ophthalmology is no stranger to innovation, cutting-edge science, or the adoption of new technologies, such as AI. But when it comes to advanced therapies, innovation crashes into a daunting final hurdle: cost.

My friend – a pediatrician – recently announced that she is crowdfunding gene therapy treatment for her son. And it really brought the issue home. Zolgensma, a one-off treatment for spinal muscular atrophy (SMA), is the most expensive drug ever introduced to the market, at $2.1 million. The FDA approved the drug in the summer of 2019 for children under two years old – the crucial time to administer the drug, as 68 percent of children with SMA type 1 die before their second birthday (1). For my friend’s infant, diagnosed at a few weeks old, the new therapy is a life-saving option. However, it is completely out of the family’s financial reach; it is not currently reimbursed – or even approved – for use in the EU.

Gene therapies for inherited eye disorders are quickly becoming a reality, but here too the price tags are eye-watering. The recent NICE guidelines for Luxturna to be the recommended treatment for adults and children with RPE65-mediated retinal dystrophies in England and Wales are a welcome development (2) – even if the British NHS and the drug’s producer, Novartis, haven’t disclosed the exact details of the agreement. But what about patients elsewhere? In the US, Luxturna is not universally covered by insurance plans, and there is no currently accepted pathway for financing expensive gene therapies.

For many adults and children around the world, gene therapies are a distant dream; the sums of money required an abstract concept. My friend’s crowdfunding campaign has raised 58 percent so far – she’s a popular blogger and a well-known pediatrician. But on the same crowdfunding site, the faces of four other infants with SMA type 1 look up at me – and their parents’ fundraising efforts are not looking as successful.

For our sister publication – The Medicine Maker – the need to improve access to medicines (by reducing costs) is a regular discussion point. Here’s hoping that the world’s scientists, engineers, and leaders can find innovative ways of providing patients with the advanced therapeutics they so desperately need.