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.
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