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We have done all we could do to respond to Charlie's family plea for help and try to give little Charlie an opportunity
25 July 2017
Based on the scientific evidence referred to in the scientific statement signed by the international researchers, we do confirm that the experimental therapy with nuceotides (Nucleoside Bypass Therapy – NST) could have been an opportunity for Charlie and it will be an opportunity for all the patients with the same or a similar rare disease.
Unfortunately, the clinical evaluation jointly carried out by our clinician and researcher – Professor Enrico Silvio Bertini, Chief of muscle and neurodegenerative diseases, and Professor Michio Hirano, Professor of Neurology at the Columbia University, revealed that little Charlie's muscle tissue was severely compromised, making it impossible to start the experimental care pan.
In fact, whilst the new MRI scans revealed deteriorating encephalopathy, but not a completely irreversible brain damage (which could benefit from the potential capacity of nucleotides to cross the blood-brain barrier), the results of the further investigation we requested revealed a severe, diffuse and irreversible loss of muscle tissue, which persuaded us give up our plan to start the experimental therapy. In fact, given the extremely severe clinical picture of the little boy, the experimental therapy would end by becoming futile medical care. Much to our regret, we realized that we probably arrived too late. But this happens frequently with innovative therapies, which are not yet included in the continuously evolving clinical protocols of rare and ultra-rare diseases.
We are not in a position to know what might have happened 6 months ago. We cannot know if Charlie would have responded to the experimental therapy. Because we are dealing with a rare condition, of which we do not know the natural history and for which we do not have evidence-based clinical protocols. For rare and ultra-rare diseases, every case is a unique story.
What we know is that we did what Charlie's mother asked us to do.
Never creating false expectations, we initially offered the family our welcome and loving support, but Charlie's mother asked for more. She asked us to verify, through an international network of clinicians and researchers, the possibility to give her child a credible opportunity of care, something based on updated and agreed upon clinical evaluations and scientific evidence. We did what she asked. The experimental therapy we proposed actually has a strong scientific rationale. Charlie's rare disease, like all other rare diseases, required a direct clinical evaluation by our clinicians, together with other clinicians and researchers. Unfortunately, this evaluation - when we had the possibility to do it - did not give a positive result. This was sad and disappointing.
However, we did reach an important result. Charlie's life support has not been removed, before responding to his parents' legitimate request and before properly and thoroughly verifying the child's clinical conditions and all the existing possibilities of care.
We have also reached another result: an in-depth international confrontation at the clinical and scientific level: an extraordinary event, of great importance for the future of rare diseases.
For the first time, the international scientific community has gathered around a single patient, to carefully evaluate all the possibilities. The clinical and scientific international community created a synergic network, fighting together for the life of a little boy. And this will give so much strength to all the other "Charlie" to come. This is the true legacy of Charlie: the commitment to develop an actual model of personalized medicine. For this, it was worth doing what we did, pushed by the energy of Charlie and his wonderful parents, and by the strength of this powerful alliance between clinicians, family and patient, and without forgetting the important contribution of patients' associations, which, in these cases, act as a crucial point of reference for all the persons involved.