The Food and Drug Administration (FDA) in the United States approved the first gene therapy to treat an inherited disease on Tuesday December 19th 2017. Although a gene therapy was approved for an ultra-rare disease in Europe a number of years ago and the FDA approved two gene therapies already this year, one for a form of leukaemia and one for a form of lymphoma, this is the first time such a therapy has been approved for an inherited retinal dystrophy (IRD) and marks a new era of hope for our community as a whole.
The approved treatment is called Luxturna, and it is a genetically modified virus that carries a healthy gene into the retina of patients born with a form of LCA called RPE65. This is an ultra-rare condition that destroys the cells in the retina that are needed for good vision. In tests on patients, the treatment often produced very good results, restoring the ability of patients to see things they could not see before, such as the stars, the moon and their parents’ faces. The treatment also allowed patients to do many things that had previously been impossible, such as read, play sports, ride bicycles and go outside at night time by themselves.
“Today’s approval marks another first in the field of gene therapy,” said FDA Commission Scott Gottlieb in a statement announcing the decision. “This milestone reinforces the potential of this breakthrough approach in treating a wide range of challenging diseases.”
Gene therapy is indeed showing promise for many other forms of inherited retinal dystrophy and in other conditions such as age-related macular degeneration (AMD). With the approval of Luxturna we are right to be optimistic. However, there is much to be done in this community to increase our knowledge of what are some of the most complex and heterogeneous conditions that exist. Over 220 separate gene defects have been described under the label of IRDs, these include conditions such as RP, Choroiderimia, Achromatopsia, Usher syndrome, Stargardt disease, LCA and others.
While there are great advances in some of these conditions and they are at the translational stage, meaning they are in or are approaching human clinical trials, so many more are showing promise but are still at the basic stage of research and only now beginning their journey to becoming a potential treatment.
As an organisation built on the objective of funding and supporting research into retinal dystrophies in order to find treatments and cures, we can celebrate the approval of a therapy as a game changing step forward but we must not forget the great need for continued investment in research for our sector in order to address a great unmet need.
The other critical area that is fundamental to the development of therapies and access to them is genetic testing. In 2017 Retina International along with the support of its members and SMAB developed an online educational toolkit on the importance of access to and reimbursement of genetic testing services for IRDs, Entitled RED Alert the tool kit highlights the urgent need to understand and provide these services and can be found on our website http://www.retina-international.org/toolkit-redalert
The FDA’s decision to approve Luxturna follows a unanimous recommendation in its favour by an advisory committee which coincided with World Sight Day on October 12th 2017. Retina International welcomes the decision to now approve the treatment and congratulates all who have brought the therapy to this stage. The team of researchers led by Jean Bennett and Albert Maguire and including many members of the Retina International SMAB from around the world, the patients who participated in the trails, those who invested in the translation of the therapy including Spark therapeutics who now bring it to the market.
Bringing light back to the lives of those who have lost it is a remarkable thing and a life changing opportunity for those patients who are eligible for treatment. We wish them all the very best.
December , 2017