Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Nicolino, Marc; Byrne, Barry J.; Wraith, J. E.; Leslie, Nancy; Mandel, Hanna; Freyer, David R.; Arnold, Georgianne L.; Pivnick, Enikö K.; Ottinger, C. J.; Robinson, P.H.; Loo, John Charles A; Smitka, Martin; Jardine, Philip; Tatò, Luciano; Chabrol, B.; McCandless, Shawn E.; Kimura, Shigemi; Mehta, Lakshmi; Bali, Deeksha; Skrinar, Alison; Morgan, Claire; Rangachari, Lakshmi; Corzo, Deya; Kishnani, Priya S.

doi:10.1097/gim.0b013e31819d0996

Cited by 261 publications

(231 citation statements)

References 23 publications

(39 reference statements)

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“…The best skeletal muscle response occurs when ERT is administered prior to skeletal muscle damage. [6,7] Treatment with alglucosidase alfa in late-onset PD is associated with improved walking distance and stabilisation of pulmonary function. [8] Alglucosidase alfa is available in 50 mg dried powder vials.…”

Section: Managementmentioning

confidence: 99%

Diagnosis and management of Pompe disease

et al. 2014

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Section: Managementmentioning

confidence: 99%

Diagnosis and management of Pompe disease

et al. 2014

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“…1,4,5 Any delay in diagnosis is not acceptable since it is now well established that an early diagnosis and timely initiation of ERT will have a drastic impact on the natural disease course. 12 The delayed start of ERT, even by only a few weeks increases the morbidity in affected infants significantly. …”

Section: Diagnostic Approachesmentioning

confidence: 99%

“…8 PD is a pan-ethnic disease with an estimated frequency of 1:40,000, although recent reports from newborn screening studies suggest that PD may be more frequent. 1,8,10,11 The advent of recombinant human enzyme replacement therapy (ERT) has improved quality of life and reduced morbidity and mortality in the majority of patients with both infantile-onset PD 11,12 and later-onset PD. 13 Recombinant human GAA (rhGAA) is harvested from Chinese hamster ovary (CHO) cells and exerts its activity after proteolytic cleavage in the lysosomes.…”

mentioning

confidence: 99%

The Diagnostic Path to Pompe Disease

Bodamer¹,

Hung²

2014

European Neurological Review

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Pompe disease (PD) is a lysosomal disease that primarily affects skeletal and smooth muscles due to a deficiency of acid alpha glucosidase.The resulting clinical phenotype reflects a continuum ranging from severe infantile to later onset forms of PD. Early diagnosis is essential to prevent long-term complications and/or disease progression through initiation of enzyme-replacement therapy. The diagnostic path to PD starts with the ascertainment of medical and family history as well as an in-depth clinical and neurological evaluation. The involvement of proximal muscle groups including hip and thigh muscles as well as the diaphragm is characteristic for later onset PD.Once PD is considered creatine kinase (CK) should be measured, realising that levels may be within normal limits in end stage disease.Ultimately, diagnostic confirmation is readily achieved by enzyme analysis in dried blood spots and/or leukocytes followed by molecular analysis. Muscle biopsy is not sensitive enough for diagnostic testing of PD but may be an important diagnostic test for the differential diagnosis of myopathies. Future diagnostic approaches include whole exome and genome sequencing, which may contribute to our understanding of genotype-phenotype correlation and phenotype prediction. KeywordsPompe disease, alpha glucosidase, glycogen storage disease II, diagnosis, laboratory testing, dried blood spot Disclosure: Olaf A Bodamer is a member of Genzyme speaker's bureau and has also received research funding. Christina Y Hung has no conflicts of interest to declare.

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“…However, these studies demonstrated an efficient glycogen clearance in cardiac muscle and liver while a modest effect was observed in skeletal muscle (17,18). Clinical studies based on the administration of rhGAA in classical infantile Pompe patients showed a prominent effect on cardiac hypertrophy, motor skill improvement as well as substantial life-span increase (19)(20)(21)(22). Administration of recombinant enzyme in late-onset patients results in a mild improvement of motor and respiratory functions, but ERT efficacy in these patients needs to be evaluated at long-term (23,24).…”

Section: Ert In Mice and Humanmentioning

confidence: 99%

New insights into therapeutic options for Pompe disease

2011

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SummaryGlycogen storage disease type II or Pompe disease (GSD II, MIM 232300) is a rare inherited metabolic myopathy caused by a deficiency of lysosomal acid a-glucosidase or acid maltase (GAA; EC 3.2.1.20), resulting in a massive lysosomal glycogen accumulation in cardiac and skeletal muscles. Affected individuals exhibit either severe hypotonia associated with hypertrophic cardiomyopathy (infantile forms) or progressive muscle weakness (late-onset forms). Even if enzyme replacement therapy has recently become a standard treatment, it suffers from several limitations. This review will present the main results of enzyme replacement therapy and the recent findings concerning alternative treatments for Pompe disease, such as gene therapy, enzyme enhancement therapy, and substrate reduction therapy. IUBMBIUBMB Life, 63(11): 979-986, 2011

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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Cited by 261 publications

References 23 publications

Diagnosis and management of Pompe disease

Diagnosis and management of Pompe disease

The Diagnostic Path to Pompe Disease

New insights into therapeutic options for Pompe disease

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