Enzyme replacement therapy for infantile-onset Pompe disease

Chen, Min; Zhang, Lingli; Liang, Yi

doi:10.1002/14651858.cd011539

Cited by 5 publications

(8 citation statements)

References 19 publications

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“…Advances in diagnosis and therapy have improved outcomes for a number of monogenic disorders. Enzyme replacement therapy has been shown to improve survival and cardiovascular morbidity in Pompe disease (Chen, Zhang, & Quan, 2017). However, such treatment is expensive and is often not realistic in developing countries.…”

Section: Casementioning

confidence: 99%

Massive parallel sequencing of dried umbilical cord remnants

Sennaiyan¹,

Phani²,

Deepak³

et al. 2020

American J of Med Genetics Pt A

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Genetic diagnosis depends on having available tissue to test. This can be important for many reasons, such as related to familial diagnosis in the case of another pregnancy. When blood or DNA samples from affected family members are not available, accurate prenatal diagnosis may be much more difficult and hence additional effort may be needed to obtain a genetic diagnosis in such families. We report two families

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Section: Casementioning

confidence: 99%

Massive parallel sequencing of dried umbilical cord remnants

Sennaiyan¹,

Phani²,

Deepak³

et al. 2020

American J of Med Genetics Pt A

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“…In addition to support therapy, which is based on artificial ventilation, physical therapy, and nutritional support [1], Pompe patients can receive one targeted treatment: enzyme replacement therapy (ERT). Approved by the FDA in 2006, ERT radically changed the prognosis of hundreds of patients [14]. Patients receive intravenous biweekly administration of 20 mg/kg recombinant human GAA enzyme (rhGAA), a 110-kDa precursor of GAA containing mannose-6-phosphate residues that allow it to bind cell surface receptors, ensuring uptake; the precursor is subsequently cleaved into the mature forms (76 kDa and 70 kDa) and reaches lysosomes through the same pathway followed by the endogenous enzyme [15].…”

Section: Current Therapeutic Approachesmentioning

confidence: 99%

“…ERT is both safe and effective [14,16]. The only adverse reactions reported are not life-threatening and are usually controllable by reducing the infusion rate.…”

Section: Current Therapeutic Approachesmentioning

confidence: 99%

Molecular Approaches for the Treatment of Pompe Disease

et al. 2019

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Glycogen storage disease type II (GSDII, Pompe disease) is a rare metabolic disorder caused by a deficiency of acid alphaglucosidase (GAA), an enzyme localized within lysosomes that is solely responsible for glycogen degradation in this compartment. The manifestations of GSDII are heterogeneous but are classified as early or late onset. The natural course of early-onset Pompe disease (EOPD) is severe and rapidly fatal if left untreated. Currently, one therapeutic approach, namely, enzyme replacement therapy, is available, but advances in molecular medicine approaches hold promise for even more effective therapeutic strategies. These approaches, which we review here, comprise splicing modification by antisense oligonucleotides, chaperone therapy, stop codon readthrough therapy, and the use of viral vectors to introduce wild-type genes. Considering the high rate at which innovations are translated from bench to bedside, it is reasonable to expect substantial improvements in the treatment of this illness in the foreseeable future.

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“…The later onset form [late-onset Pompe disease (LOPD)] manifests with predominant but not exclusive skeletal muscle involvement (4). Since the licensing of alglucosidase alfa (a recombinant human GAA) 15 years ago, this drug is the therapy of choice for all patients living with Pompe disease (4)(5)(6)(7)(8). The implementation of enzyme replacement therapy (ERT) has been a huge leap forward but the disease is still far from being cured.…”

Section: Introductionmentioning

confidence: 99%

Pompe disease: what are we missing?

Schöser

2019

Ann. Transl. Med

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Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. Furthermore, autophagic buildup, organelle abnormalities, and energy deficit are regularly observed. Enzyme replacement therapy has been available for patients living with Pompe disease for more than 15 years. Although our disease knowledge has grown enormously, we still have multiple challenges to overcome. Here, I will discuss unmet clinical needs, neglected or overlooked aspects of the pathophysiology, and issues related to future therapies.

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Enzyme replacement therapy for infantile-onset Pompe disease

Cited by 5 publications

References 19 publications

Massive parallel sequencing of dried umbilical cord remnants

Massive parallel sequencing of dried umbilical cord remnants

Molecular Approaches for the Treatment of Pompe Disease

Pompe disease: what are we missing?

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