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Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
J Inherit Metab Dis 2001; 24(2):266-74JI

Abstract

Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. In this report we review the first 36 weeks of a clinical study on the safety and efficacy of enzyme therapy aimed at correcting the deficiency. Four patients with infantile Pompe disease were enrolled. They received recombinant human alpha-glucosidase from transgenic rabbit milk. The product is generally well tolerated and reaches the primary target tissues. Normalization of alpha-glucosidase activity in skeletal muscle was obtained and degradation of PAS-positive material was seen in tissue sections. The clinical condition of all patients improved. The effect on heart was most significant, with an impressive reduction of the left ventricular mass index (LVMI). Motor function improved. The positive preliminary results stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease.

Authors+Show Affiliations

Department of Pediatrics, Sophia Children's Hospital, University Hospital Rotterdam, The Netherlands. vanderploeg@alkg.azr.nlNo 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

11405345

Citation

Van den Hout, J M., et al. "Enzyme Therapy for Pompe Disease With Recombinant Human Alpha-glucosidase From Rabbit Milk." Journal of Inherited Metabolic Disease, vol. 24, no. 2, 2001, pp. 266-74.
Van den Hout JM, Reuser AJ, de Klerk JB, et al. Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24(2):266-74.
Van den Hout, J. M., Reuser, A. J., de Klerk, J. B., Arts, W. F., Smeitink, J. A., & Van der Ploeg, A. T. (2001). Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. Journal of Inherited Metabolic Disease, 24(2), pp. 266-74.
Van den Hout JM, et al. Enzyme Therapy for Pompe Disease With Recombinant Human Alpha-glucosidase From Rabbit Milk. J Inherit Metab Dis. 2001;24(2):266-74. PubMed PMID: 11405345.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. AU - Van den Hout,J M, AU - Reuser,A J, AU - de Klerk,J B, AU - Arts,W F, AU - Smeitink,J A, AU - Van der Ploeg,A T, PY - 2001/6/19/pubmed PY - 2002/1/5/medline PY - 2001/6/19/entrez SP - 266 EP - 74 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 24 IS - 2 N2 - Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. In this report we review the first 36 weeks of a clinical study on the safety and efficacy of enzyme therapy aimed at correcting the deficiency. Four patients with infantile Pompe disease were enrolled. They received recombinant human alpha-glucosidase from transgenic rabbit milk. The product is generally well tolerated and reaches the primary target tissues. Normalization of alpha-glucosidase activity in skeletal muscle was obtained and degradation of PAS-positive material was seen in tissue sections. The clinical condition of all patients improved. The effect on heart was most significant, with an impressive reduction of the left ventricular mass index (LVMI). Motor function improved. The positive preliminary results stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/11405345/Enzyme_therapy_for_pompe_disease_with_recombinant_human_alpha_glucosidase_from_rabbit_milk_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=2001&volume=24&issue=2&spage=266 DB - PRIME DP - Unbound Medicine ER -