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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.
J Inherit Metab Dis. 2012 Sep; 35(5):837-45.JI

Abstract

OBJECTIVES

Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span.

METHODS

We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4- stair climb tests, modified Gowers' maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 selfreporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT.

RESULTS

In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p=0.006), remaining at 356.4 ± 155.9 m at 24 months (p=0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p=0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05%after 36 months. Only mean CK levels were significantly decreased by 8.8% (p=0.041). All other tests were statistically nonsignificant changed.

CONCLUSION

Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT.

Authors+Show Affiliations

Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany.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 available

Pub Type(s)

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

Language

eng

PubMed ID

22290025

Citation

Regnery, Caroline, et al. "36 Months Observational Clinical Study of 38 Adult Pompe Disease Patients Under Alglucosidase Alfa Enzyme Replacement Therapy." Journal of Inherited Metabolic Disease, vol. 35, no. 5, 2012, pp. 837-45.
Regnery C, Kornblum C, Hanisch F, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012;35(5):837-45.
Regnery, C., Kornblum, C., Hanisch, F., Vielhaber, S., Strigl-Pill, N., Grunert, B., Müller-Felber, W., Glocker, F. X., Spranger, M., Deschauer, M., Mengel, E., & Schoser, B. (2012). 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. Journal of Inherited Metabolic Disease, 35(5), 837-45.
Regnery C, et al. 36 Months Observational Clinical Study of 38 Adult Pompe Disease Patients Under Alglucosidase Alfa Enzyme Replacement Therapy. J Inherit Metab Dis. 2012;35(5):837-45. PubMed PMID: 22290025.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. AU - Regnery,Caroline, AU - Kornblum,Cornelia, AU - Hanisch,Frank, AU - Vielhaber,Stefan, AU - Strigl-Pill,Nicola, AU - Grunert,Birgit, AU - Müller-Felber,Wolfgang, AU - Glocker,Franz Xaver, AU - Spranger,Matthias, AU - Deschauer,Marcus, AU - Mengel,Eugen, AU - Schoser,Benedikt, Y1 - 2012/01/31/ PY - 2011/10/17/received PY - 2012/01/10/accepted PY - 2012/01/03/revised PY - 2012/2/1/entrez PY - 2012/2/1/pubmed PY - 2013/4/5/medline SP - 837 EP - 45 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 35 IS - 5 N2 - OBJECTIVES: Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. METHODS: We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4- stair climb tests, modified Gowers' maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 selfreporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT. RESULTS: In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p=0.006), remaining at 356.4 ± 155.9 m at 24 months (p=0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p=0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05%after 36 months. Only mean CK levels were significantly decreased by 8.8% (p=0.041). All other tests were statistically nonsignificant changed. CONCLUSION: Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/22290025/36_months_observational_clinical_study_of_38_adult_Pompe_disease_patients_under_alglucosidase_alfa_enzyme_replacement_therapy_ L2 - https://doi.org/10.1007/s10545-012-9451-8 DB - PRIME DP - Unbound Medicine ER -