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Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up
Author(s) -
Winkel Léon P. F.,
Van den Hout Johanna M. P.,
Kamphoven Joep H. J.,
Disseldorp Janus A. M.,
Remmerswaal Maaike,
Arts Willem F. M.,
Loonen M. Christa B.,
Vulto Arnold G.,
Van Doorn Pieter A.,
De Jong Gerard,
Hop Wim,
Smit G. Peter A.,
Shapira Stuart K.,
Boer Marijke A.,
Reuser Arnold J. J.,
Van der Ploeg Ans T.,
van Diggelen Otto P.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20019
Subject(s) - enzyme replacement therapy , glycogen storage disease type ii , myopathy , medicine , disease , pulmonary function testing , recombinant dna , weakness , skeletal muscle , enzyme , muscle weakness , pediatrics , endocrinology , surgery , biology , biochemistry , gene
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen is caused by acid α‐glucosidase deficiency. Patients with late‐onset Pompe's disease present with progressive muscle weakness also affecting pulmonary function. In search of a treatment, we investigated the feasibility of enzyme replacement therapy with recombinant human α‐glucosidase from rabbit milk. Three patients (aged 11, 16, and 32 years) were enrolled in the study. They were all wheelchair‐bound and two of them were ventilator dependent with a history of deteriorating pulmonary function. After 3 years of treatment with weekly infusions of α‐glucosidase, the patients had stabilized pulmonary function and reported less fatigue. The youngest and least affected patient showed an impressive improvement of skeletal muscle strength and function. After 72 weeks of treatment, he could walk without support and finally abandoned his wheelchair. Our findings demonstrate that recombinant human α‐glucosidase from rabbit milk has a therapeutic effect in late‐onset Pompe's disease. There is good reason to continue the development of enzyme replacement therapy for Pompe's disease and to explore further the production of human therapeutic proteins in the milk of mammals. Ann Neurol 2004;55:000–000