|Title:||Alglucosidase Alfa in Infants and Children with Pompe Disease||Authors:||HWU, WUH-LIANG||Issue Date:||2008||Journal Volume:||v.18||Journal Issue:||n.9-10||Start page/Pages:||800-800||Source:||NEUROMUSCULAR DISORDERS||Abstract:||
Background: Pompe disease is caused by a deficiency of acid alpha- glucosidase (GAA). Severe GAA deficiency manifests during infancy with rapidly progressing muscle weakness, and cardiomyopathy that typically results in death by 1 year. Aim/methods: Two open-label studies were conducted in patients less-than-or-equals, slant6 months (S1, n = 18) or > 6–36 months (S2, n = 21) of age with rapidly progressing disease. S1 patients received alglucosidase alfa at 20 or 40 mg/kg qow; S2 patients started at 20 mg/kg qow. Results: Mean age at treatment and median duration of treatment were 5.1 months and 121 weeks (S1), 15.7 months and 120 weeks (S2 ), respectively. Cox regression analyses comparing study patients to historical controls; (S1 n = 61; S2 n = 84) indicated that in patients treated at less-than-or-equals, slant6 months, treatment reduced risk of death by 95%, death or invasive ventilation by 91%, and death or any ventilation by 87% (all p < 0.0001). In patients >6–36 months, treatment reduced risk of death by 79% (p = 0.0009) and death or invasive ventilation by 58% (p = 0.02). Sustained decrease in LVM occurred in 94% ( S1) and 81% (S2) of patients. Normal growth occurred in >80% of patients, clinically significant motor gains in 61%. Infusion- associated reactions occurred in 56%; IgG antibodies developed in 92%. Low IgG titres or trending towards decreasing titres occurred with continued treatment in 74 % of those seroconverting. Patients with two null GAA mutations and high, sustained IgG titres more often had poor long-term clinical outcomes. Conclusion: These findings demonstrate clinical benefit of alglucosidase alfa in this population and emphasize the need for early treatment.
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