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Lentiviral Stem Cell Gene Therapy for Pompe Disease

2015; IOS Press; Volume: 2; Issue: s1 Linguagem: Inglês

10.3233/jnd-159055

2214-3602

Qiushi Liang, Merel Stok, Yvette van Helsdingen, Guus van der Velden, Ed Jacobs, Dirk J. Duncker, Arnold Reuser, Ans van der Ploeg, Arnold G. Vulto, Niek P. van Til, Gerard Wagemaker,

Biochemical and Molecular Research

Pompe disease is a rare autosomal recessive metabolic disorder caused by defi ciency of lysosomal hydrolase acid α-glucosidase (GAA). GAA degrades glycogen to glucose, and defi ciency results in generalized tissue glycogen accumulation leading to cardiorespiratory failure in the early-onset patients within the fi rst year of life. Enzyme replacement therapy (ERT) by administration of recombinant acid α-glucosidase (alglucosidase alfa, Myozyme®) is currently the only effective treatment, requiring highdose biweekly administration. Although of considerable bene it to many patients, ERT is not curative, requires life-long administration, may result in immune responses to the recombinant enzyme and, partly due to the high doses required for clinical ef icacy, the costs are extremely high. Therefore, a corrective intervention with curative intent represents an unmet medical need.