Clinical efficacy of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ

Abstract

Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ (GSDⅡ).  Methods Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, and was continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone was administered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for 16 months including motor function, the time free of ventilation, and the change of respiration parameters.  Results Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate the next day after taking Myozyme. With the prolonged time and increased number of taking drugs, the time free of ventilation and doing in-situ stepping prolonged, and the speed of stepping in-situ also increased. Besides, the strength of lifting the upper limbs increased, and both the time and speed of walking free of ventilation prolonged. The maximus curative effect occured at the 7th month (3 months after drug withdrawal) after treatment and returned to pre-treatment levels at the 8th month (4 months after drug withdrawal). The pain on shoulder was the first symptom that got improved, and the fastest symptom that returned to baseline.  Conclusions Myozyme has positive effect on ventilated patients with late-onset glycogen storage disease type Ⅱ.

doi: 10.3969/j.issn.1672-6731.2014.05.009