Matteo Piovella, president of the Italian Society of Ophthalmology (Soi), answers
Request. Hi, I suffer from cone dystrophy and have been under the care of Federico II in Naples for three years. In the last check-up visit I was also given the result of the genetic research I underwent and which confirmed the diagnosis. My cousin, also suffering from cone dystrophy but being treated in Rome, informed me of an experimental puncture, I think it was an intravitreal injection or something. Could I also access this experimental treatment or some other treatment in the process of being tested? I have also heard about the Luxturna drug. Can you give me some information? Thanks, Michele
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Reply. Dear reader, any ‘experimental’ treatment such as those you have listed is applied to specific people who have significantly or totally impaired visual conditions. This is because experimentation must avoid producing further damage on a totally compromised situation. The experimentation of a theoretically valid idea or therapy in the vast majority of cases fails because it fails to reach the intended goal. Here is a rule of ethical medicine that is respected all over the world. For this reason, there are a very limited number of suitable patients and in any case they are informed of the serious limitations of the therapies that are being studied and to be tested. This is why the selection of suitable patients is very particular and concerns a few people who are extremely selected for the disabling pathology. You point out that you have also been well followed from a genetic point of view and this is fundamental. Therefore, I suggest you ask the ophthalmologists of Federico II in Naples to illustrate in detail your situation and possibly the reasons why you cannot be included in these research and experimentation groups. Today you must remain awaiting further research developments even if this will have to lead to a wait of years because the times of research and experiments applied to humans are inevitably long. We speak for genetic diseases of a realistic timing of 10 years in order to obtain use with positive results that can be spent for an adequate number of patients. Provided that everything goes well and in the end whoever organized the study is able to scientifically demonstrate beneficial results for patients. This is the most complex and difficult activity in medicine. In the meantime, continue to undergo regular eye and vision checks. Only in this way will she be able to keep the visual apparatus in the best state: only in this way, if we have a solution in the future, can this be used by her. If, on the other hand, the eyes were damaged by other ill-treated diseases, everything would have been useless. Take care of your vision in the best possible way. I understand its difficulty, but you have to be persistent and well oriented.