glycogen and Cough

A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease.. Open-label, multicenter study of IV alglucosidase alfa treatment in 21 infants 3-43 months old (median 13 months) with minimal acid alpha-glucosidase activity and abnormal left ventricular mass index by echocardiography. Patients received IV alglucosidase alfa every 2 weeks for up to 168 weeks (median 120 weeks). Survival results were compared with an untreated reference cohort.. At study end, 71% (15/21) of patients were alive and 44% (7/16) of invasive-ventilator free patients remained so. Compared with the untreated reference cohort, alglucosidase alfa reduced the risk of death by 79% (P < 0.001) and the risk of invasive ventilation by 58% (P = 0.02). Left ventricular mass index improved or remained normal in all patients evaluated beyond 12 weeks; 62% (13/21) achieved new motor milestones. Five patients were walking independently at the end of the study and 86% (18/21) gained functional independence skills. Overall, 52% (11/21) of patients experienced infusion-associated reactions; 95% (19/20) developed IgG antibodies to recombinant human lysosomal acid alpha-glucosidase; no patients withdrew from the study because of safety concerns.. In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival. Treatment also improved indices of cardiomyopathy, motor skills, and functional independence.

Topics: alpha-Glucosidases; Body Height; Body Weight; Child, Preschool; Cough; Echocardiography; Enzyme-Linked Immunosorbent Assay; Female; Glycogen; Glycogen Storage Disease Type II; Humans; Immunoglobulin G; Infant; Kaplan-Meier Estimate; Male; Muscle, Skeletal; Skin Diseases; Time Factors; Treatment Outcome

Topics: Biopsy, Fine-Needle; Carcinoma, Squamous Cell; Cell Nucleus; Cough; Cytoplasmic Granules; Endosonography; Erythrocytes; Glycogen; Humans; Immunohistochemistry; Keratin-5; Lung Neoplasms; Lymphatic Metastasis; Male; Mediastinum; Middle Aged