Malattie rare: ipofosfatasia, pediatra Pitea ‘con asfotase alfa risultati eclatanti a livello radiografico’

10 months ago

(Adnkronos) - Con asfotase alfa “si va a curare l'alterazione ossea determinata dall'assenza della fosfatasi alcalina. La parte più eclatante si ha a livello radiografico: un osso gravemente disorganizzato con una cartilagine di accrescimento e con dei segni compatibili con un importante rachitismo, migliora nettamente sia nella mineralizzazione ossea che nella formazione di nuovo tessuto osseo”. Così Marco Pitea, medico del dipartimento di Pediatria Irccs ospedale S. Raffaele di Milano, intervenendo, all’incontro con la stampa organizzata da Alexion, AstraZeneca Rare Disease su ‘Svolta nella cura dell'Ipofosfatasia: approvata la rimborsabilità in Italia di asfotase alfa, la prima terapia per il trattamento di bambini e adulti'.

Transcript

00:00The drug is called asphotase-alpha, we are in the field of

00:09substitutional enzymatic therapies, so I have a genetic mutation that does not allow me to

00:14properly produce phosphatase alkaline and therefore I am going to replace the function of

00:19phosphatase alkaline by giving it from the outside. Basically it is a

00:24substitutional drug for something that I cannot properly produce, so

00:28phosphatase alkaline is essential for the mineralization and construction of the bone tissue

00:34and therefore through the drug I am going to overcome the deficiency determined by the genetic mutation.

00:39So, children who have a great difficulty in deambulation, large physical disproportions,

00:47obvious physical anomalies, which after the start of therapy certainly have an improvement

00:55in physical performance, for example a child who cannot walk or who walks

01:01with support even after 18 months of life, can then start walking spontaneously,

01:08but the most striking part is at the radiographic level, a gravely disorganized bone with

01:15a cartilage of growth with signs compatible with an important rachitism, I am not saying

01:21that it is completely restored, but there is a clear improvement both in bone mineralization

01:29and in the formation of new bone tissue, so it is a healthier, healthier bone that allows

01:36to have a movement, a support of the muscle, of the joint, better than in the past,

01:43so we are going to cure the bone alteration determined by the absence of phosphatase alkaline.

01:49The administration is subcutaneous, you can choose a treatment with a lower dosage

01:56on 6 days a week, but in small children we prefer to give a slightly higher dosage,

02:02but 3 times a week to avoid the daily appointment with the puncture.

02:08At the same time, however, it is a very well tolerated therapy and for the striking effects it gives,

02:14the parents are still motivated to continue the therapy and even the children have never

02:20experienced such discomfort from having to interrupt this therapy.

02:24A therapy that does not solve the genetic alteration, but replaces the function of the missing gene,

02:31so the genetic alteration will be a life-long alteration and therefore this will also be a life-long therapy.

Malattie rare: ipofosfatasia, pediatra Pitea ‘con asfotase alfa risultati eclatanti a livello radiografico’

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