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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
Orphanet J Rare Dis. 2012 Sep 26; 7:73.OJ

Abstract

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 (manual muscle testing +3.3 pp/y, p < 0.001 and hand-held dynamometry +7.9 pp/y, p < 0.001). Its effect on upright FVC was +1.8 pp/y (p = 0.08) and on supine FVC +0.8 (p = 0.38). Favorable prognostic factors were female gender for muscle strength, and younger age and better clinical status for supine FVC.

CONCLUSIONS

We conclude that ERT positively alters the natural course of Pompe disease in adult patients; muscle strength increased and upright FVC stabilized. Functional outcome is probably best when ERT intervention is timely.

Authors+Show Affiliations

Department of Neurology & Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.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 availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

23013746

Citation

de Vries, Juna M., et al. "Effect of Enzyme Therapy and Prognostic Factors in 69 Adults With Pompe Disease: an Open-label Single-center Study." Orphanet Journal of Rare Diseases, vol. 7, 2012, p. 73.
de Vries JM, van der Beek NA, Hop WC, et al. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis. 2012;7:73.
de Vries, J. M., van der Beek, N. A., Hop, W. C., Karstens, F. P., Wokke, J. H., de Visser, M., van Engelen, B. G., Kuks, J. B., van der Kooi, A. J., Notermans, N. C., Faber, C. G., Verschuuren, J. J., Kruijshaar, M. E., Reuser, A. J., van Doorn, P. A., & van der Ploeg, A. T. (2012). Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet Journal of Rare Diseases, 7, 73. https://doi.org/10.1186/1750-1172-7-73
de Vries JM, et al. Effect of Enzyme Therapy and Prognostic Factors in 69 Adults With Pompe Disease: an Open-label Single-center Study. Orphanet J Rare Dis. 2012 Sep 26;7:73. PubMed PMID: 23013746.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. AU - de Vries,Juna M, AU - van der Beek,Nadine A M E, AU - Hop,Wim C J, AU - Karstens,Francois P J, AU - Wokke,John H, AU - de Visser,Marianne, AU - van Engelen,Baziel G M, AU - Kuks,Jan B M, AU - van der Kooi,Anneke J, AU - Notermans,Nicolette C, AU - Faber,Catharina G, AU - Verschuuren,Jan J G M, AU - Kruijshaar,Michelle E, AU - Reuser,Arnold J J, AU - van Doorn,Pieter A, AU - van der Ploeg,Ans T, Y1 - 2012/09/26/ PY - 2012/06/18/received PY - 2012/09/19/accepted PY - 2012/9/28/entrez PY - 2012/9/28/pubmed PY - 2013/4/11/medline SP - 73 EP - 73 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 7 N2 - 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 (manual muscle testing +3.3 pp/y, p < 0.001 and hand-held dynamometry +7.9 pp/y, p < 0.001). Its effect on upright FVC was +1.8 pp/y (p = 0.08) and on supine FVC +0.8 (p = 0.38). Favorable prognostic factors were female gender for muscle strength, and younger age and better clinical status for supine FVC. CONCLUSIONS: We conclude that ERT positively alters the natural course of Pompe disease in adult patients; muscle strength increased and upright FVC stabilized. Functional outcome is probably best when ERT intervention is timely. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/23013746/Effect_of_enzyme_therapy_and_prognostic_factors_in_69_adults_with_Pompe_disease:_an_open_label_single_center_study_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-73 DB - PRIME DP - Unbound Medicine ER -