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Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.
Lung. 2013 Oct; 191(5):537-44.LUNG

Abstract

PURPOSE

Type II glycogenosis (GSDII) is a rare and often fatal neuromuscular disorder caused by acid alpha-glucosidase deficiency. Although alglucosidase alfa enzyme replacement therapy (ERT) significantly improves outcomes in subjects with the infantile form, its efficacy in patients with the late-onset one is not entirely clear. The long-term efficacy of ERT in late-onset GSGII complicated by severe pulmonary impairment causing high mechanical ventilation dependency was investigated in this study.

METHODS

The long-term clinical efficacy of ERT was assessed in eight late-onset GSDII patients using home mechanical ventilation (HMV) by comparing their outcomes with those of six historical control patients (GSDII patients) who had received HMV alone. The number of hospitalizations due to pulmonary exacerbations and of hours of daily use of HMV were considered the study's primary efficacy endpoints.

RESULTS

The treatment group showed an increased tendency toward shorter follow-up compared to the control group (35.8 ± 29.2 vs. 52.6 ± 8.55 months; p = 0.04). At the end of the study period, the daily use of HMV (12.5 ± 7.6 vs. 19 ± 14.3 h; p = 0.004) and the hospitalization rate [incidence rate ratio = 0.43 (95 % confidence interval 0.18-0.93); p = 0.03] were significantly lower in the patients receiving ERT. The differences in the forced vital capacity absolute value and percentage change from baseline were not significantly different in the two groups.

CONCLUSIONS

ERT reduces ventilator dependency in late-onset GSDII patients and the need for hospitalization due to respiratory exacerbations.

Authors+Show Affiliations

Respiratory Pathophysiology Division, University-City Hospital of Padova, Padua, Italy, avianello@qubisoft.it.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Controlled Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23839583

Citation

Vianello, Andrea, et al. "Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients With Late-onset Type II Glycogenosis and High Ventilator Dependency." Lung, vol. 191, no. 5, 2013, pp. 537-44.
Vianello A, Semplicini C, Paladini L, et al. Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung. 2013;191(5):537-44.
Vianello, A., Semplicini, C., Paladini, L., Concas, A., Ravaglia, S., Servidei, S., Toscano, A., Mongini, T., Angelini, C., & Pegoraro, E. (2013). Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung, 191(5), 537-44. https://doi.org/10.1007/s00408-013-9489-x
Vianello A, et al. Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients With Late-onset Type II Glycogenosis and High Ventilator Dependency. Lung. 2013;191(5):537-44. PubMed PMID: 23839583.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. AU - Vianello,Andrea, AU - Semplicini,Claudio, AU - Paladini,Luciana, AU - Concas,Alessandra, AU - Ravaglia,Sabrina, AU - Servidei,Serenella, AU - Toscano,Antonio, AU - Mongini,Tiziana, AU - Angelini,Corrado, AU - Pegoraro,Elena, Y1 - 2013/07/10/ PY - 2013/03/05/received PY - 2013/06/17/accepted PY - 2013/7/11/entrez PY - 2013/7/11/pubmed PY - 2014/5/30/medline SP - 537 EP - 44 JF - Lung JO - Lung VL - 191 IS - 5 N2 - PURPOSE: Type II glycogenosis (GSDII) is a rare and often fatal neuromuscular disorder caused by acid alpha-glucosidase deficiency. Although alglucosidase alfa enzyme replacement therapy (ERT) significantly improves outcomes in subjects with the infantile form, its efficacy in patients with the late-onset one is not entirely clear. The long-term efficacy of ERT in late-onset GSGII complicated by severe pulmonary impairment causing high mechanical ventilation dependency was investigated in this study. METHODS: The long-term clinical efficacy of ERT was assessed in eight late-onset GSDII patients using home mechanical ventilation (HMV) by comparing their outcomes with those of six historical control patients (GSDII patients) who had received HMV alone. The number of hospitalizations due to pulmonary exacerbations and of hours of daily use of HMV were considered the study's primary efficacy endpoints. RESULTS: The treatment group showed an increased tendency toward shorter follow-up compared to the control group (35.8 ± 29.2 vs. 52.6 ± 8.55 months; p = 0.04). At the end of the study period, the daily use of HMV (12.5 ± 7.6 vs. 19 ± 14.3 h; p = 0.004) and the hospitalization rate [incidence rate ratio = 0.43 (95 % confidence interval 0.18-0.93); p = 0.03] were significantly lower in the patients receiving ERT. The differences in the forced vital capacity absolute value and percentage change from baseline were not significantly different in the two groups. CONCLUSIONS: ERT reduces ventilator dependency in late-onset GSDII patients and the need for hospitalization due to respiratory exacerbations. SN - 1432-1750 UR - https://www.unboundmedicine.com/medline/citation/23839583/Enzyme_replacement_therapy_improves_respiratory_outcomes_in_patients_with_late_onset_type_II_glycogenosis_and_high_ventilator_dependency_ L2 - https://dx.doi.org/10.1007/s00408-013-9489-x DB - PRIME DP - Unbound Medicine ER -