Tags

Type your tag names separated by a space and hit enter

Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
J Neurol. 2014 Sep; 261(9):1684-90.JN

Abstract

Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in late-onset Pompe disease is moderately effective. Little is known about the clinical course after treatment termination and the resumption of ERT. In Switzerland, rhGAA therapy for Pompe disease was temporarily withdrawn after the federal court judged that the treatment costs were greatly out of proportion compared to the benefits. Re-treatment was initiated after the therapy was finally licensed. We retrospectively analysed seven Pompe patients, who underwent cessation and resumption of ERT (median age 43 years). The delay from first symptoms to final diagnosis ranged from 4 to 20 years. The demographics, clinical characteristics, assessments with the 6-min walking test (6-MWT), the predicted forced vital capacity (FVC) and muscle strength were analysed. Before initiation of ERT, all patients suffered from proximal muscle weakness of the lower limbs; one was wheelchair-bound and two patients received night-time non-invasive ventilation. Initial treatment stabilised respiratory function in most patients and improved their walking performance. After treatment cessation, upright FVC declined in most and the 6-MWT declined in all patients. Two patients needed additional non-invasive ventilatory support. Twelve months after resuming ERT, the respiratory and walking capacity improved again in most patients. However, aside for one patient, none of the patients reached the same level of respiratory function or distance walked in 6 min, as at the time of ERT withdrawal. We conclude that cessation of ERT in Pompe disease causes a decline in clinical function and should be avoided. Resuming treatment only partially recovers respiratory function and walking capacity.

Authors+Show Affiliations

Department of Neurology, Cantonal Hospital St. Gallen, Rorschacherstr. 95, 9007, St. Gallen, Switzerland, thomas.hundsberger@kssg.ch.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24923245

Citation

Hundsberger, Thomas, et al. "Cessation and Resuming of Alglucosidase Alfa in Pompe Disease: a Retrospective Analysis." Journal of Neurology, vol. 261, no. 9, 2014, pp. 1684-90.
Hundsberger T, Rösler KM, Findling O. Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. J Neurol. 2014;261(9):1684-90.
Hundsberger, T., Rösler, K. M., & Findling, O. (2014). Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. Journal of Neurology, 261(9), 1684-90. https://doi.org/10.1007/s00415-014-7402-z
Hundsberger T, Rösler KM, Findling O. Cessation and Resuming of Alglucosidase Alfa in Pompe Disease: a Retrospective Analysis. J Neurol. 2014;261(9):1684-90. PubMed PMID: 24923245.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. AU - Hundsberger,Thomas, AU - Rösler,Kai M, AU - Findling,Oliver, Y1 - 2014/06/13/ PY - 2014/04/15/received PY - 2014/06/04/accepted PY - 2014/06/03/revised PY - 2014/6/14/entrez PY - 2014/6/14/pubmed PY - 2015/11/10/medline SP - 1684 EP - 90 JF - Journal of neurology JO - J. Neurol. VL - 261 IS - 9 N2 - Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in late-onset Pompe disease is moderately effective. Little is known about the clinical course after treatment termination and the resumption of ERT. In Switzerland, rhGAA therapy for Pompe disease was temporarily withdrawn after the federal court judged that the treatment costs were greatly out of proportion compared to the benefits. Re-treatment was initiated after the therapy was finally licensed. We retrospectively analysed seven Pompe patients, who underwent cessation and resumption of ERT (median age 43 years). The delay from first symptoms to final diagnosis ranged from 4 to 20 years. The demographics, clinical characteristics, assessments with the 6-min walking test (6-MWT), the predicted forced vital capacity (FVC) and muscle strength were analysed. Before initiation of ERT, all patients suffered from proximal muscle weakness of the lower limbs; one was wheelchair-bound and two patients received night-time non-invasive ventilation. Initial treatment stabilised respiratory function in most patients and improved their walking performance. After treatment cessation, upright FVC declined in most and the 6-MWT declined in all patients. Two patients needed additional non-invasive ventilatory support. Twelve months after resuming ERT, the respiratory and walking capacity improved again in most patients. However, aside for one patient, none of the patients reached the same level of respiratory function or distance walked in 6 min, as at the time of ERT withdrawal. We conclude that cessation of ERT in Pompe disease causes a decline in clinical function and should be avoided. Resuming treatment only partially recovers respiratory function and walking capacity. SN - 1432-1459 UR - https://www.unboundmedicine.com/medline/citation/24923245/Cessation_and_resuming_of_alglucosidase_alfa_in_Pompe_disease:_a_retrospective_analysis_ L2 - https://dx.doi.org/10.1007/s00415-014-7402-z DB - PRIME DP - Unbound Medicine ER -