Elsevier

Neuromuscular Disorders

Volume 20, Issue 12, December 2010, Pages 773-774
Neuromuscular Disorders

Editorial
Where do we stand in enzyme replacement therapy in Pompe’s disease?

https://doi.org/10.1016/j.nmd.2010.09.011Get rights and content

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  • Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

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    The only treatment currently approved for PD is enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA). Although most of the studies on ERT support its efficacy in improving survival of PD patients, long-term follow-up studies have shown that ERT does not completely prevent disease progression.6,7 In fact, the experience of hundreds of PD patients treated with ERT has shown that not all patients respond equally well to therapy and that skeletal muscle (one of the major sites of disease and an important target of therapy) is more refractory to treatment than other tissues.8

  • Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

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    Patients with classic infantile Pompe disease have an overall better survival and improved quality of life when treated with enzyme replacement therapy (ERT; registered in 2006 as Myozyme, also marketed as Lumizyme), but this therapy has its limitations. Close to 50% of infants still die at a very young age despite ERT, and residual disease remains in the other patients due to insufficient targeting of the skeletal muscles and a neutralizing immune response, particularly in patients that do not produce any endogenous acid GAA.8–13 Another limitation of ERT is the inability to cross the blood-brain barrier.

  • Spectrum of metabolic myopathies

    2015, Biochimica et Biophysica Acta - Molecular Basis of Disease
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    Furthermore, rhGAA treatment reduced the risk of death and of invasive ventilation, compared with an untreated control group [15]. In contrast to the natural course of untreated patients, most of treated infants acquired motor and functional skills and some patients remained ambulant at the age of 11 years [16]. It was thought that ERT started early in life of infantile patients would have led to a shift toward a juvenile or late-onset phenotype, but this was not the fact: these long term survivor infantile patients present peculiar clinical characteristics (such as elongated face and bulbar features) that might be due to the lack of penetrance of rhGAA in the central nervous system (CNS) [17,18].

  • Glycogen Storage Diseases of Muscle

    2015, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
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