In the beginning it was Claudio Mantovani, an IT technician from Moncalieri (Turin). He is ‘patient 1’ of Holostem, the biotech company created to develop advanced therapies based on stem cells and committed for years to giving hope to ‘butterfly children’ affected by a very serious rare genetic disease, epidermolysis bullosa (Heb). Today, when this company, based in Modena, risks liquidation – there are 3 days left to save it – his voice is among those who have joined the chorus of appeals addressed to the Government to intervene to stop the countdown. At 53 years old, Claudio, suffering from junctional epidermolysis bullosa, is the ‘living proof’ of what the treatment can do which then in 2017 saved little Hassan, a Syrian child refugee in Germany who was given new skin with the healthy gene, first life-saving intervention in the world with epidermal stem cells corrected by gene therapy.
On those two rectangles – “15-20 centimeters by 10” – of genetically modified skin that were used to treat the part of Claudio’s body where the disease manifested itself in a more severe form, i.e. the thighs, “I have no longer had and still do not have any bullous lesions – he tells Adnkronos Salute – Experimentation on those rectangles has worked and is still working for 18 years now. I was 35 years old when I received the successful treatment. And today it is exciting to see that, while in the nearby areas the disease manifests itself, there it is as if there was a barrier beyond which it does not go, a border where the bubbles stop”.
“And if it didn’t change my life, because I was an adult and it was possible to intervene where there was most need, thanks to this success, little Hassan’s life was saved”, reason. Claudio is linked to the young Syrian by an invisible thread, woven through research. He was the first patient in the world to have demonstrated the feasibility of gene therapy for epidermolysis bullosa, Hassan the child of the “scientific ‘miracle'” celebrated by ‘Nature’, but also “the answer to the questions that like many rare disease patients I asked myself in moments of discouragement, during the most painful medications: why me? And then I saw a meaning”, he says. The successful operation on Claudio dates back to 2005, but it was the culmination of a journey that began well before. “I have known Michele De Luca, a pioneering scientist of the treatments developed by Holostem, since 1998 when he was still working at the IDI in Rome”, he specifies. And the scientist today is ‘one of the family’. “He’s my best man at the wedding. It couldn’t not be him”, smiles Claudio, who has been married to Irene for almost 10 years and has a little girl – “Emanuela, a gift” – who is now 5 years old.
For all he has experienced, Holostem’s fate touches his heart. “These days – reflects Claudio – hearing that for bureaucratic reasons, for financial reasons, all this work aimed at the new generations and all this research could stop, causes me discouragement. I wonder: was it of any use? Of course, even Hassan’s life alone was worth it for me. And, to tell the truth, even if he hadn’t been there I would have said the same, about the journey I undertook. Having had this experience, felt these emotions, been part of all this, was almost a privilege. ” But, he adds, “closing Holostem would mean denying therapy to all the butterfly children they hope for. I feel amazement, because I think: we are rare patients, but not invisible.”
Rare destinies that intertwine. Claudio also met Hassan once in Modena. “Almost by chance. He was there for a check-up and so was I. It was touching to hug him – he says – And watching the video of an interview with his father in recent days touched me again. I too identified myself as a father This child was doomed, he was practically kept in a pharmacological coma, with no hope of a normal life. Now he can play, run with friends”, he may not need to medicate every day.
Claudio was also a ‘butterfly child’. As a child, his parents “always tried to minimize the sacrifices” that he had to make. “I was lively – he remembers – for example I wanted to play in the oratory’s football team, and they made me try. I understood on my own that football was better seen than practiced. Or again, when my brother went skiing, I wanted to go with him. So my dad invented plaster caps to minimize the trauma of the boot” in contact with the delicate skin. “So I would go, and yes, I would get bubbles. Even today I try to lead as ‘normal’ a life as I can, even though the disease is continuing.”
From his childhood Claudio also remembers his parents’ efforts to find an answer to his illness. “In the 70s, there were no centers like Holostem. We traveled around Italy or Europe. When we heard that there was a skin specialist somewhere, we left. Even at a cost, as happened in sometimes, to meet charlatans. And so”, suitcase in hand and off we go. Destination “Zurich, Paris, Padua”, lists. “Fortunately today there are reference centers.”
Regarding his journey with De Luca, Claudio places an important value on everything, even the first attempt to treat him, which failed. “Because then the techniques were refined and the failure was also taken advantage of – he underlines -. This time the excellence is in Italy, it is our country that arrived first, why lose all this? We complain about the brain drain, Let’s not let them run away. If there were no setbacks of this type, research would proceed faster and perhaps subsequent generations will see a disease like EB, which can be devastating, eradicated. Let’s not let Holostem die – is Claudio’s appeal – also for the good of the country”.
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