Abstract
Pompe disease, especially in its infantile form, is a fatal disease. Most of the patients with this disease synthesize a nonfunctional form of the enzyme alpha glucosidase (GAA), the deficient enzyme in this disease. Patients producing some amount of this protein are labeled as cross-reactive immunologic material (CRIM)-positive. Few of them are unable to synthesize it and are labeled CRIM-negative. The clinical course of the disease has changed with the advent of enzyme replacement therapy (ERT) with recombinant alpha glucosidase enzyme (rhGAA). However, CRIM-negative patients have always been known to have poor outcome on ERT due to the development of anti-rhGAA antibodies in their bodies that neutralizes ERT efficacy. Here, we describe two CRIM-negative siblings on rhGAA ERT with unusually low anti-rhGAA antibody titer and good clinical outcome. Up to our current knowledge, this is the first report that describes such a good response to ERT in CRIM-negative patients.
Competing interests: None declared
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Abbreviations
- CRIM:
-
Cross reactive immunologic material
- ERT:
-
Enzyme replacement therapy
- GAA:
-
Acid alpha glucosidase
- rhGAA:
-
Recombinant human acid alpha glucosidase
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Acknowledgments
We thank Joe Kreeger, echocardiography laboratory supervisor, Children's Healthcare of Atlanta, for encrypting the echocardiograms published in this study.
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Communicated by: Ed Wraith
Appendices
Synopsis
Some CRIM-negative patients can have good outcome on enzyme replacement therapy
Authors’ Contribution
Hamoud H. Al Khallaf contributed to this work by gathering some data, drawing a figure, and participating in writing the manuscript.
Jennifer Propst contributed to this work by summarizing patients’ clinical data and revising the manuscript.
Eleanor Botha helped in summarizing patients’ clinical data and revising the manuscript.
Serge Geffrard performed echocardiogram for the patients and revised the manuscript.
M. Ali Pervaiz planned the study, obtained the clinical data from the patients, and edited the entire manuscript.
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Was obtained from the mother of the two subjects.
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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg
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Khallaf, H.H.A., Propst, J., Geffrard, S., Botha, E., Pervaiz, M.A. (2012). CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy. In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports – Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_192
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DOI: https://doi.org/10.1007/8904_2012_192
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