(Adnkronos) - “Nell'ipofosfatasia non funziona bene la fosfatasi alcalina, l'enzima fondamentale per far mineralizzare lo scheletro e anche l'apparato dentario. Il farmaco”, asfotase alfa, “è una molecola che sostituisce l'enzima carente. Già nelle prime settimane di trattamento il paziente riferisce di stare meglio”. Così Maria Luisa Brandi, presidente della fondazione Firmo - Fondazione italiana ricerca sulle malattie dell'osso, intervenendo, a Milano, all’incontro con la stampa organizzato da Alexion, AstraZeneca Rare Disease dal titolo 'Svolta nella cura dell'Ipofosfatasia: approvata la rimborsabilita' in Italia di asfotase alfa, la prima terapia per il trattamento di bambini e adulti'.
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00:00What is the role of phosphatase alkaline in hypophosphatase?
00:04Phosphatase alkaline does not work well in hypophosphatase,
00:08which is the fundamental enzyme to mineralize the skeleton,
00:12or to mineralize the dental apparatus.
00:15So, without this enzyme, we tend to have sick teeth,
00:19a sick skeleton, and fractures due to fragility,
00:22and also pseudo-fractures, a real osteomalacia.
00:26So, when we talk about a drug,
00:29we are talking about a substance, a molecule,
00:33that replaces the enzyme.
00:36So, we have a drug, which is an artificial, synthetic
00:40phosphatase alkaline, because it is produced
00:44in recombinant technology, which reaches the bone,
00:48and there it does what the enzyme, which has a mutated gene
00:52and therefore cannot do it efficiently,
00:55is now able to do it, so it replaces the missing enzyme.
01:00Italy did not have a great experience,
01:03simply because the drug was not refundable.
01:06So, we could only give it to the most serious patients,
01:10by making applications, which seemed like a grant application,
01:14to prepare a request for one of these drugs.
01:18I have had patients, and I have to say that there was
01:22a particular patient, who was now in bed,
01:25with femoral fractures, multiple vertebrae,
01:28assisted by the family.
01:31She had penile syndrome, she was going back and forth
01:35from the department of neurological urgency.
01:41She was very sick, full of pain, and was now in bed.
01:46After the pharmacological treatment, she came to my studio
01:50with only one stick, which was a miracle for me.
01:53She took a plane trip to come and see me.
01:56She got on the stairs of the plane, she got off,
02:01she came to me and said, look how well I am.