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Enzyme therapy in Pompe disease: questions remain
Molecular Genetics and Metabolism 107 (2012) 243
Contents lists available at SciVerse ScienceDirect
Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme
Letter to the Editor Enzyme therapy in Pompe disease: questions remain
To the Editor, Suhrad G. Banugaria et al. recently published an article in Mol. Genet. Metab. 105 (2012) 677–680 entitled: ‘Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease’. According to this article, the patient described started on enzyme therapy as 1 of 3 patients (‘patient 1’) who participated in the first phase I/II clinical trial of rhGAA (recombinant human acid αglucosidase) as reported by Andrea Amalfitano et al. in Genet. Med. 3 (2001) 132–138. This publication from 2001 was focused on the effect of enzyme replacement therapy in Pompe disease. It discussed the potentially negative effect of antibody formation, but did not mention the application of immunomodulatory therapy as reported by Banugaria et al. in Mol. Genet. Metab. 105 (2012) 677–680. With regard to the treatment of ‘patient 1’, there are more inconsistencies between the data reported by Banugaria et al. in Mol. Genet. Metab. 105 (2012) 677–680 and those reported by Amalfitano et al. in Genet. Med. 3 (2001) 132–138. Whereas Amalfitano et al. reported in 2001 that 3 patients with infantile Pompe disease (including ‘patient 1’) had received a twice-weekly intravenous infusion of rhGAA (5 mg/kg) for 14 to 17 months (63–76 weeks), Banugaria et al. reported that ‘patient 1’ had received a twice-weekly dose of
1096-7192/$ – see front matter © 2012 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2012.05.010
5 mg/kg for only 22 weeks (5 months), followed by a twice-weekly dose of 10 mg/kg for the next 36 weeks (8 months), and a 5 timesweekly dose of 10 mg/kg over the last 4 months (17 months in total). Banugaria et al. also reported in Mol. Genet. Metab. 105 (2012) 677–680 that ‘patient 1’ was subjected to 3 rounds of immunomodulation consisting of cyclophosphamide, intravenous immunoglobulin (IVIG), plasmapheresis, and increased doses of rhGAA (10 mg/kg daily for 9 days in a row) beginning at week 20 of treatment. According to Banugaria et al., the 3 rounds of immunomodulation were applied within the 14 to 17 months of treatment reported by Amalfitano et al. in Genet. Med. 3 (2001) 132–138 (2001), but not mentioned in that publication. While Drs Y.-T. Chen, P.S. Kishnani and A. Amalfitano are authors on both publications, the information contained in Banugaria et al., Mol. Genet. Metab. 2012;105:677–680 and Amalfitano et al., Genet. Med. 2001;3:132–138 is mutually inconsistent.
A.J.J. Reuser Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands E-mail address: [email protected].
15 May 2012
Contents lists available at SciVerse ScienceDirect
Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme
Letter to the Editor Enzyme therapy in Pompe disease: questions remain
To the Editor, Suhrad G. Banugaria et al. recently published an article in Mol. Genet. Metab. 105 (2012) 677–680 entitled: ‘Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease’. According to this article, the patient described started on enzyme therapy as 1 of 3 patients (‘patient 1’) who participated in the first phase I/II clinical trial of rhGAA (recombinant human acid αglucosidase) as reported by Andrea Amalfitano et al. in Genet. Med. 3 (2001) 132–138. This publication from 2001 was focused on the effect of enzyme replacement therapy in Pompe disease. It discussed the potentially negative effect of antibody formation, but did not mention the application of immunomodulatory therapy as reported by Banugaria et al. in Mol. Genet. Metab. 105 (2012) 677–680. With regard to the treatment of ‘patient 1’, there are more inconsistencies between the data reported by Banugaria et al. in Mol. Genet. Metab. 105 (2012) 677–680 and those reported by Amalfitano et al. in Genet. Med. 3 (2001) 132–138. Whereas Amalfitano et al. reported in 2001 that 3 patients with infantile Pompe disease (including ‘patient 1’) had received a twice-weekly intravenous infusion of rhGAA (5 mg/kg) for 14 to 17 months (63–76 weeks), Banugaria et al. reported that ‘patient 1’ had received a twice-weekly dose of
1096-7192/$ – see front matter © 2012 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2012.05.010
5 mg/kg for only 22 weeks (5 months), followed by a twice-weekly dose of 10 mg/kg for the next 36 weeks (8 months), and a 5 timesweekly dose of 10 mg/kg over the last 4 months (17 months in total). Banugaria et al. also reported in Mol. Genet. Metab. 105 (2012) 677–680 that ‘patient 1’ was subjected to 3 rounds of immunomodulation consisting of cyclophosphamide, intravenous immunoglobulin (IVIG), plasmapheresis, and increased doses of rhGAA (10 mg/kg daily for 9 days in a row) beginning at week 20 of treatment. According to Banugaria et al., the 3 rounds of immunomodulation were applied within the 14 to 17 months of treatment reported by Amalfitano et al. in Genet. Med. 3 (2001) 132–138 (2001), but not mentioned in that publication. While Drs Y.-T. Chen, P.S. Kishnani and A. Amalfitano are authors on both publications, the information contained in Banugaria et al., Mol. Genet. Metab. 2012;105:677–680 and Amalfitano et al., Genet. Med. 2001;3:132–138 is mutually inconsistent.
A.J.J. Reuser Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands E-mail address: [email protected].
15 May 2012