Literature DB >> 29289479

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Ankit K Desai1, Crista K Walters1, Heidi L Cope1, Zoheb B Kazi1, Stephanie M DeArmey1, Priya S Kishnani2.   

Abstract

Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3h 45min for a patient receiving the standard dose of 20mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6h 36min. Increased infusion durations compound the psychosocial burden on patients and families and potentially further disrupt family activities and obligations. We developed a stepwise infusion rate escalation protocol to administer higher dose ERT safely while decreasing infusion duration, which has been implemented in 15 patients to date. Reported here in detail are five patients with IOPD on 40mg/kg/weekly ERT in whom infusion duration was decreased with individualized, stepwise rate escalation. All patients tolerated rate escalations above the recommended rates without experiencing any infusion associated reactions and experienced a reduction in infusion duration by 1h and 24min with a corresponding increase in reported satisfaction. Our experience with ERT rate escalation is presented. SYNOPSIS: A careful stepwise method of enzyme replacement therapy (ERT) rate escalation can safely reduce infusion duration in patients with Pompe disease.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ERT; Enzyme replacement therapy; Glycogen storage disease type II; Infusion duration; Infusion rate escalation; Neuromuscular disease; Pompe disease

Mesh:

Substances:

Year:  2017        PMID: 29289479      PMCID: PMC5808871          DOI: 10.1016/j.ymgme.2017.12.435

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  16 in total

1.  Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.

Authors:  Tammy L Yanovitch; Robin Casey; Suhrad G Banugaria; Priya S Kishnani
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2.  A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Authors:  Priya S Kishnani; Wuh-Liang Hwu; Hanna Mandel; Marc Nicolino; Florence Yong; Deyanira Corzo
Journal:  J Pediatr       Date:  2006-05       Impact factor: 4.406

3.  Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Authors:  P S Kishnani; D Corzo; M Nicolino; B Byrne; H Mandel; W L Hwu; N Leslie; J Levine; C Spencer; M McDonald; J Li; J Dumontier; M Halberthal; Y H Chien; R Hopkin; S Vijayaraghavan; D Gruskin; D Bartholomew; A van der Ploeg; J P Clancy; R Parini; G Morin; M Beck; G S De la Gastine; M Jokic; B Thurberg; S Richards; D Bali; M Davison; M A Worden; Y T Chen; J E Wraith
Journal:  Neurology       Date:  2006-12-06       Impact factor: 9.910

4.  Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families.

Authors:  R Freedman; M Sahhar; L Curnow; J Lee; H Peters
Journal:  J Genet Couns       Date:  2013-03-28       Impact factor: 2.537

5.  Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

Authors:  Nina Raben; Shoichi Takikita; Maria G Pittis; Bruno Bembi; Suely K N Marie; Ashley Roberts; Laura Page; Priya S Kishnani; Benedikt G H Schoser; Yin-Hsiu Chien; Evelyn Ralston; Kanneboyina Nagaraju; Paul H Plotz
Journal:  Autophagy       Date:  2007-06-15       Impact factor: 16.016

6.  The emerging phenotype of long-term survivors with infantile Pompe disease.

Authors:  Sean N Prater; Suhrad G Banugaria; Stephanie M DeArmey; Eleanor G Botha; Erin M Stege; Laura E Case; Harrison N Jones; Chanika Phornphutkul; Raymond Y Wang; Sarah P Young; Priya S Kishnani
Journal:  Genet Med       Date:  2012-04-26       Impact factor: 8.822

7.  The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.

Authors:  Suhrad G Banugaria; Sean N Prater; Yiu-Ki Ng; Joyce A Kobori; Richard S Finkel; Roger L Ladda; Yuan-Tsong Chen; Amy S Rosenberg; Priya S Kishnani
Journal:  Genet Med       Date:  2011-08       Impact factor: 8.822

Review 8.  Physical therapy management of Pompe disease.

Authors:  Laura Elizabeth Case; Priya Sunil Kishnani
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

9.  CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Authors:  Kathryn L Berrier; Zoheb B Kazi; Sean N Prater; Deeksha S Bali; Jennifer Goldstein; Mihaela C Stefanescu; Catherine W Rehder; Eleanor G Botha; Carolyn Ellaway; Kaustuv Bhattacharya; Anna Tylki-Szymanska; Nesrin Karabul; Amy S Rosenberg; Priya S Kishnani
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.

Authors:  C M van Gelder; E Poelman; I Plug; M Hoogeveen-Westerveld; N A M E van der Beek; A J J Reuser; A T van der Ploeg
Journal:  J Inherit Metab Dis       Date:  2016-01-14       Impact factor: 4.982

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  6 in total

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Authors:  Andreas Hahn; Anne Schänzer
Journal:  Ann Transl Med       Date:  2019-07

2.  Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.

Authors:  Dmitriy Niyazov; Diego A Lara
Journal:  Ochsner J       Date:  2018

3.  Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion rate escalation protocol.

Authors:  Eleonora Riccio; Mario Zanfardino; Monica Franzese; Ivana Capuano; Pasquale Buonanno; Lucia Ferreri; Maria Amicone; Antonio Pisani
Journal:  Mol Genet Genomic Med       Date:  2021-03-23       Impact factor: 2.183

4.  Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy.

Authors:  Jesa L Landis; Holly Hyland; Steven J Kindel; Ann Punnoose; Gabrielle C Geddes
Journal:  Mol Genet Metab Rep       Date:  2018-05-21

5.  Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates.

Authors:  Helena Costa-Verdera; Fanny Collaud; Christopher R Riling; Pauline Sellier; Jayme M L Nordin; G Michael Preston; Umut Cagin; Julien Fabregue; Simon Barral; Maryse Moya-Nilges; Jacomina Krijnse-Locker; Laetitia van Wittenberghe; Natalie Daniele; Bernard Gjata; Jeremie Cosette; Catalina Abad; Marcelo Simon-Sola; Severine Charles; Mathew Li; Marco Crosariol; Tom Antrilli; William J Quinn; David A Gross; Olivier Boyer; Xavier M Anguela; Sean M Armour; Pasqualina Colella; Giuseppe Ronzitti; Federico Mingozzi
Journal:  Nat Commun       Date:  2021-11-04       Impact factor: 14.919

6.  To detect potential pathways and target genes in infantile Pompe patients using computational analysis.

Authors:  Aynur Karadağ Gürel; Selçuk Gürel
Journal:  Bioimpacts       Date:  2022-01-22
  6 in total

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