Tags

Type your tag names separated by a space and hit enter

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.
Muscle Nerve 2003; 27(6):743-51MN

Abstract

Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is currently under development for this disease. We evaluated the morphological changes in muscle tissue of four children with infantile Pompe's disease who received recombinant human alpha-glucosidase from rabbit milk for 72 weeks. The patients were 2.5-8 months of age at entry. Prior to treatment, all patients showed lysosomal glycogen storage in skeletal and smooth muscle cells, vascular endothelium, Schwann cells, and perineurium. The first response to treatment was noticed in vascular endothelium and in peripheral nerves after 12 weeks of treatment at an enzyme dose of 15-20 mg/kg. Increasing the dose to 40 mg/kg led, after 72 weeks of treatment, to a reduction of glycogen storage and substantial improvement of muscle architecture in the least affected patient. Not all patients responded equally well, possibly due to differences in degree of glycogen storage and concomitant muscle pathology at the start of treatment. We conclude that intravenous administration of recombinant human alpha-glucosidase from rabbit milk can improve muscle morphology in classic infantile Pompe's disease when treatment is started before irreversible damage has occurred.

Authors+Show Affiliations

Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands.No 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

12766987

Citation

Winkel, Léon P F., et al. "Morphological Changes in Muscle Tissue of Patients With Infantile Pompe's Disease Receiving Enzyme Replacement Therapy." Muscle & Nerve, vol. 27, no. 6, 2003, pp. 743-51.
Winkel LP, Kamphoven JH, van den Hout HJ, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve. 2003;27(6):743-51.
Winkel, L. P., Kamphoven, J. H., van den Hout, H. J., Severijnen, L. A., van Doorn, P. A., Reuser, A. J., & van der Ploeg, A. T. (2003). Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle & Nerve, 27(6), pp. 743-51.
Winkel LP, et al. Morphological Changes in Muscle Tissue of Patients With Infantile Pompe's Disease Receiving Enzyme Replacement Therapy. Muscle Nerve. 2003;27(6):743-51. PubMed PMID: 12766987.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. AU - Winkel,Léon P F, AU - Kamphoven,Joep H J, AU - van den Hout,Hannerieke J M P, AU - Severijnen,Lies A, AU - van Doorn,Pieter A, AU - Reuser,Arnold J J, AU - van der Ploeg,Ans T, PY - 2003/5/27/pubmed PY - 2003/7/12/medline PY - 2003/5/27/entrez SP - 743 EP - 51 JF - Muscle & nerve JO - Muscle Nerve VL - 27 IS - 6 N2 - Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is currently under development for this disease. We evaluated the morphological changes in muscle tissue of four children with infantile Pompe's disease who received recombinant human alpha-glucosidase from rabbit milk for 72 weeks. The patients were 2.5-8 months of age at entry. Prior to treatment, all patients showed lysosomal glycogen storage in skeletal and smooth muscle cells, vascular endothelium, Schwann cells, and perineurium. The first response to treatment was noticed in vascular endothelium and in peripheral nerves after 12 weeks of treatment at an enzyme dose of 15-20 mg/kg. Increasing the dose to 40 mg/kg led, after 72 weeks of treatment, to a reduction of glycogen storage and substantial improvement of muscle architecture in the least affected patient. Not all patients responded equally well, possibly due to differences in degree of glycogen storage and concomitant muscle pathology at the start of treatment. We conclude that intravenous administration of recombinant human alpha-glucosidase from rabbit milk can improve muscle morphology in classic infantile Pompe's disease when treatment is started before irreversible damage has occurred. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/12766987/Morphological_changes_in_muscle_tissue_of_patients_with_infantile_Pompe's_disease_receiving_enzyme_replacement_therapy_ L2 - https://doi.org/10.1002/mus.10381 DB - PRIME DP - Unbound Medicine ER -