Jul 01, 2021
In addition to his capacity as Teckro chief medical officer, Brendan Buckley is also chairman of the Irish patient-led charity Fighting Blindness.
For those of us favored with all our senses, the loss of even one of them would seem catastrophic. To lose both hearing and vision is almost unimaginable. Yet, about 1% of the population has both profound hearing and vision loss, caused by a range of factors from head trauma to genetics.
Their disability tends to hide them from our view and has an overwhelming impact on their lives. We tend not to meet such people out and about and so it is easy to forget them. This is why DeafBlind Awareness Week is so important. Highlighting deafblind people reminds us of the plight of a large group of our fellow citizens and of their needs. We need to support the search for treatments to improve their lives and for the cures that can transform them.
For example, Usher Syndrome is a cluster of genetic disorders that results in deafness and loss of vision. People with Usher Syndrome Type-1 are born profoundly deaf and begin to progressively lose their vision while still in childhood. Their vision is lost due to progressive degeneration of the light sensing retinal cells as well as the retinal pigmented epithelial cells that support them, a condition called retinitis pigmentosa. They can only look ahead to the inexorable dimming of the light.
An Irish proverb says that “It is better to light a single candle than to sit cursing the darkness.” For many, clinical research is the spark that can light that candle. At Teckro, our mission to modernize and simplify clinical trials is an important element in bringing light to those who need life-saving treatments and drugs.
Additionally, the role of patient advocacy organizations is crucial as champions who fight for patients’ rights. They help drive awareness to promote clinical and early diagnostic services, and these organizations stimulate and fund research into cures. As with many other medical conditions, early diagnosis is fundamental to treatments that may alleviate these conditions, for example technology to improve hearing through use of cochlear implants.
In recent years, there have been major advances in gene therapy for retinitis pigmentosa, much of it funded by patient advocacy charities. Even in a small country like Ireland, the patients’ charity Fighting Blindness – of which I am chairman - can claim to have funded the discovery of the first gene defect in retinitis pigmentosa, the development of an animal model, and the first gene therapy trials in animals. From such foundations, as well as from the work of a variety of groups globally, there is now an approved gene therapy for a subset of retinitis pigmentosa patients. Luxturna (voretigene neparvovec) is the first gene therapy to treat an inherited retinal disease in children and adults with vision loss caused by mutations in both copies of the RPE65 gene and who possess sufficient viable retinal cells. More such treatments will, doubtless, follow.
There are about a dozen clinical trials of therapies in Usher Syndrome listed on clinicaltrials.gov and more than 200 trials for retinitis pigmentosa, including cell and gene therapies. That’s a lot of candles being lit in the darkness! It seems inevitable that many people for whom loss of sight would have previously been inevitable, can now hope for light.
A key task now for patient advocacy groups and for health services is to develop registries of patients with such conditions, with comprehensive genetic and phenotypic characterization. This step is important so that clinical trials can be more accessible so more participants benefit from the best care often found with experimental treatments in clinical studies. There is also the opportunity to proactively notify both patients and physicians of drugs and treatments approved by regulators, which can contribute to improved quality of life.
Developing new treatments for people deprived of sight and sound will ultimately encounter the difficult question of reimbursement of their cost. Gene therapies currently on the market typically cost of the order of a million dollars per patient. Set against the considerable lifetime cost of supporting untreated patients as well as the economic loss of a person whose ability to work is limited, this is not an unreasonable expense if looked at holistically. In addition, there is a moral reason to try support our disadvantaged fellow citizens.
Deafblind Awareness Week should remind us to re-examine this issue and to attempt to resolve a framework for provision of life-transforming treatments that goes far beyond sterile and simplistic accountancy. Science can soon bring tangible improvements to many deafblind people, particularly the young. However, science needs to exist within a culture of compassion that is determined to use its discoveries to restore health and function to those that most need them.