Literature DB >> 21543987

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.

Daniel Forsha1, Jennifer S Li, P Brian Smith, Ans T van der Ploeg, Priya Kishnani, Sara K Pasquali.   

Abstract

PURPOSE: We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease.
METHODS: Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo in a double-blinded protocol. Electrocardiograms and echocardiograms were obtained at baseline and scheduled intervals during the 78-week study period. Baseline cardiovascular abnormalities, and efficacy and safety of enzyme replacement therapy were described. Three pediatric patients were excluded.
RESULTS: Eighty-seven patients were included. Median age was 44 years; 51% were men. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in mild range). There was no change in cardiovascular status associated with enzyme replacement therapy. No significant safety concerns related to enzyme replacement therapy were identified.
CONCLUSIONS: Although some patients with late-onset Pompe disease had abnormalities on baseline electrocardiogram or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. Cardiovascular parameters were not impacted by enzyme replacement therapy, and there were no cardiovascular safety concerns. The cardiovascular abnormalities identified may be related to Pompe disease or other comorbid conditions.

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Year:  2011        PMID: 21543987      PMCID: PMC3138812          DOI: 10.1097/GIM.0b013e3182142966

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  41 in total

1.  Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.

Authors:  L Klinge; V Straub; U Neudorf; J Schaper; T Bosbach; K Görlinger; M Wallot; S Richards; T Voit
Journal:  Neuromuscul Disord       Date:  2004-11-26       Impact factor: 4.296

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.  Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Authors:  S Strothotte; N Strigl-Pill; B Grunert; C Kornblum; K Eger; C Wessig; M Deschauer; F Breunig; F X Glocker; S Vielhaber; A Brejova; M Hilz; K Reiners; W Müller-Felber; E Mengel; M Spranger; Benedikt Schoser
Journal:  J Neurol       Date:  2009-08-01       Impact factor: 4.849

4.  The spectrum and diagnosis of acid maltase deficiency.

Authors:  A G Engel; M R Gomez; M E Seybold; E H Lambert
Journal:  Neurology       Date:  1973-01       Impact factor: 9.910

5.  Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

Authors:  M G Ausems; J Verbiest; M P Hermans; M A Kroos; F A Beemer; J H Wokke; L A Sandkuijl; A J Reuser; A T van der Ploeg
Journal:  Eur J Hum Genet       Date:  1999-09       Impact factor: 4.246

6.  Disease severity in children and adults with Pompe disease related to age and disease duration.

Authors:  M L C Hagemans; L P F Winkel; W C J Hop; A J J Reuser; P A Van Doorn; A T Van der Ploeg
Journal:  Neurology       Date:  2005-06-28       Impact factor: 9.910

Review 7.  Pompe's disease.

Authors:  Ans T van der Ploeg; Arnold J J Reuser
Journal:  Lancet       Date:  2008-10-11       Impact factor: 79.321

8.  Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

Authors:  Lei-Ru Chen; Chun-An Chen; Shuenn-Nan Chiu; Yin-Hsiu Chien; Ni-Chung Lee; Ming-Tai Lin; Wuh-Liang Hwu; Jou-Kou Wang; Mei-Hwan Wu
Journal:  J Pediatr       Date:  2009-05-31       Impact factor: 4.406

Review 9.  Pompe disease in infants and children.

Authors:  Priya Sunil Kishnani; R Rodney Howell
Journal:  J Pediatr       Date:  2004-05       Impact factor: 4.406

10.  Pompe disease diagnosis and management guideline.

Authors:  Priya S Kishnani; Robert D Steiner; Deeksha Bali; Kenneth Berger; Barry J Byrne; Laura E Case; Laura Case; John F Crowley; Steven Downs; R Rodney Howell; Richard M Kravitz; Joanne Mackey; Deborah Marsden; Anna Maria Martins; David S Millington; Marc Nicolino; Gwen O'Grady; Marc C Patterson; David M Rapoport; Alfred Slonim; Carolyn T Spencer; Cynthia J Tifft; Michael S Watson
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

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  13 in total

Review 1.  [Diagnosis and therapy of late onset Pompe disease].

Authors:  A Schüller; C Kornblum; M Deschauer; M Vorgerd; B Schrank; E Mengel; Z Lukacs; D Gläser; P Young; U Plöckinger; B Schoser
Journal:  Nervenarzt       Date:  2013-12       Impact factor: 1.214

Review 2.  Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Authors:  Antonio Toscano; Carmelo Rodolico; Olimpia Musumeci
Journal:  Ann Transl Med       Date:  2019-07

3.  Right ventricular function in late-onset Pompe disease.

Authors:  Abdallah Fayssoil; Olivier Nardi; Djillali Annane; David Orlikowski
Journal:  J Clin Monit Comput       Date:  2014-01-14       Impact factor: 2.502

4.  Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease.

Authors:  Daniel A Morris; Daniela Blaschke; Alice Krebs; Sima Canaan-Kühl; Ursula Plöckinger; Gesine Knobloch; Thula C Walter; York Kühnle; Leif-Hendrik Boldt; Elisabeth Kraigher-Krainer; Burkert Pieske; Wilhelm Haverkamp
Journal:  Int J Cardiovasc Imaging       Date:  2015-03-06       Impact factor: 2.357

5.  Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.

Authors:  Jin-Sung Park; Hye-Gyung Kim; Jin-Hong Shin; Young-Chul Choi; Dae-Seong Kim
Journal:  Neurol Sci       Date:  2014-11-12       Impact factor: 3.307

6.  Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

Authors:  C Angelini; C Semplicini; S Ravaglia; B Bembi; S Servidei; E Pegoraro; M Moggio; M Filosto; E Sette; G Crescimanno; P Tonin; R Parini; L Morandi; G Marrosu; G Greco; O Musumeci; G Di Iorio; G Siciliano; M A Donati; F Carubbi; M Ermani; T Mongini; A Toscano
Journal:  J Neurol       Date:  2011-11-12       Impact factor: 4.849

7.  Chagasic cardiomyopathy and Pompe disease: case report.

Authors:  Rafael Ob de Morais; Ândrea V Chaves-Markman; Anna Pp Miranda; Ingrid G Amorim; Maria da Ga de M Cavalcanti; Manuel Markman; Brivaldo Markman-Filho
Journal:  Am J Cardiovasc Dis       Date:  2018-04-05

8.  Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

Authors:  A Manta; S Spendiff; H Lochmüller; R Thompson
Journal:  J Neuromuscul Dis       Date:  2021

Review 9.  Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.

Authors:  Riccardo Vio; Annalisa Angelini; Cristina Basso; Alberto Cipriani; Alessandro Zorzi; Paola Melacini; Gaetano Thiene; Alessandra Rampazzo; Domenico Corrado; Chiara Calore
Journal:  J Clin Med       Date:  2021-05-01       Impact factor: 4.241

10.  Cardiac-specific over-expression of epidermal growth factor receptor 2 (ErbB2) induces pro-survival pathways and hypertrophic cardiomyopathy in mice.

Authors:  Polina Sysa-Shah; Yi Xu; Xin Guo; Frances Belmonte; Byunghak Kang; Djahida Bedja; Scott Pin; Noriko Tsuchiya; Kathleen Gabrielson
Journal:  PLoS One       Date:  2012-08-09       Impact factor: 3.240

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