Enzyme replacement therapy and antibodies in late-onset Pompe disease
نویسندگان
چکیده
http://dx.doi.org/10.1016/j.ymgmr.2014.01.001 2214-4269/© 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND licen (http://creativecommons.org/licenses/by-nc-nd/3.0/). Patients with late-onset Pompe disease receiving enzyme replacement therapy (ERT) usually develop IgG antibodies against algucosidase alpha (anti-rhGAA) within the first 3 months. The role of these antibodies in adults is not fully understood. Patel et al. recently published an article entitled: ‘The impact of antibodies in late-onset Pompe disease: a case series and literature review’, Mol. Genet. Metab. 106 (2012) 301-9 [1]. They describe three adult Pompe patients with high, sustained antibody titers (HSAT = anti-rhGAA IgG titer N 1: 51,200 on two or more occasions at or beyond 6 months on ERT) associated with deterioration under ERT. We analyzed long-term testing for these antibodies performed by Genzyme Corporation using the same methods as described by Patel et al. in 10 genetically confirmed patients with late-onset Pompe disease: None of our patients met the criteria for HSAT. It is noteworthy that 3/10 patients (P1,8,9) had anti-rhGAA IgG titers thatwere undetectable or borderline (Table 1). These three patients maintained a stable disease course under ERT. One of those patients with antibodies (P6) developed a sudden increase of the antibody titer to 1:25,600 after 40 months of ERT, which was associated with the need for noninvasive ventilation and walking aids. Nevertheless, in another patient (P2) an antibody titer of 1:25,600 had no impact on the functional status. In conclusion our data as the data from Patel et al. suggest that peaks of anti-rhGAA IgG antibody titers can occur even after several years of ERT. In our small cohort no clear correlation between anti-rhGAA IgG titer and clinical outcome under ERT can be figured out although those patients without antibodies remained stable under ERT after 4 years compared to deterioration in some patients with antibodies.
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