Academic Journal
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study
| العنوان: | Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study |
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| المؤلفون: | Vries, J.M. (Juna) de, Beek, N.A.M.E. (Nadine) van der, Hop, W.C.J. (Wim), Karstens, F.P.J. (François), Wokke, J.H.J. (John), Visser, M. (Marianne) de, Engelen, B.G.M. (Baziel) van, Kuks, J.B.M. (Jan), Kooj, A.J. (Anneke), Notermans, N.C. (Nicolette), Faber, C.G. (Carin), Verschuuren, J.J. (Jan), Kruijshaar, M.E. (Michelle), Reuser, A.J.J. (Arnold), Doorn, P.A. (Pieter) van, Ploeg, A.T. (Ans) van der |
| المصدر: | Orphanet Journal of Rare Diseases vol. 7 no. 1 |
| سنة النشر: | 2012 |
| المجموعة: | RePub - Publications from Erasmus University, Rotterdam |
| مصطلحات موضوعية: | Acid -glucosidase, Alglucosidase alfa, Enzyme replacement therapy, Glycogen storage disease type II, Lung function, Lysosomal storage disorder, Muscle strength, OMIM number 232300, Pompe disease |
| الوصف: | Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also identified potential prognostic factors. Methods. Patients in this open-label single-center study were treated biweekly with 20 mg/kg alglucosidase alfa. Muscle strength, muscle function, and pulmonary function were assessed every 3-6 months and analyzed using repeated-measures ANOVA. Results: Sixty-nine patients (median age 52.1 years) were followed for a median of 23 months. Muscle strength increased after start of ERT (manual muscle testing 1.4 percentage points per year (pp/y); hand-held dynamometry 4.0 pp/y; both p < 0.001). Forced vital capacity (FVC) remained stable when measured in upright, but declined in supine position (-1.1 pp/y; p = 0.03). Muscle function did not improve in all patients (quick motor function test 0.7 pp/y; p = 0.14), but increased significantly in wheelchair-independent patients and those with mild and moderate muscle weakness.Relative to the pre-treatment period (49 patients with 14 months pre-ERT and 22 months ERT median follow-up), ERT affected muscle strength positively (manu |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | http://repub.eur.nl/pub/38660; urn:hdl:1765/38660 |
| DOI: | 10.1186/1750-1172-7-73 |
| الاتاحة: | http://repub.eur.nl/pub/38660 https://doi.org/10.1186/1750-1172-7-73 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E12EC490 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/1750-1172-7-73 |
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