Over the last few months, I’ve been asking gene therapy researchers about the biggest obstacles ahead. The most common answer I received: funding. The image in general is not bleak: most researchers are able to work with commercial partners to receive the support they need, but there are areas of gene therapy that are particularly difficult to commercialize.
Mariya Moosajee, Associate Professor and Honorary Consultant at the University College London’s Institute of Ophthalmology, told me about a patient whose case was recently featured in a BBC documentary on the history of Moorfields Eye Hospital.
Four-year-old Vicky has a genetic mutation in the RDH12 gene, which causes one form of Leber Congenital Amaurosis – and she is losing her vision every single day. I have a four-year-old son, so I can perfectly understand how desperate Vicky’s mother is to save her child’s eyesight.
Moosajee is working hard to develop a treatment for patients like Vicky. On my recent visit to the institute, I got a chance to see the zebrafish her team is using to model the condition – it’s cutting-edge work. But, as Moosajee points out, there may only be a hundred patients in the world with the same mutation who may be eligible for treatment – after all, there are at least 20 forms of LCA, each caused by a defect in a different gene.
The cost of preclinical and clinical work, and then further development of the therapy per subset of patients would be astronomical. Developing therapies for young children adds another potential complication to the list: disease history studies performed on adults may result in standardized outcome measures that aren't so standard for children. To combat the problem, researchers need to pour even more time and – you've guessed it – money into their endeavor.
While the team at the lab works with new generations of the tiny zebrafish every day, Vicky’s sight slowly deteriorates. And though Moosajee is hopeful that she will be able to develop some form of gene therapy to help patients like Vicky one day, nothing can be certain.
When it comes to funding the research – and any resulting therapies – for patients with inherited retinal disorders, our society must answer an ethically challenging question: what price do we put on a child’s eyesight?
