First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient

Merve Emecen Sanli; Hacer Ilbilge Ertoy Karagol; Ayse Kilic; Ekin Aktasoglu; Asli Inci; Ilyas Okur; Fatih Ezgu; Leyla Tumer

doi:10.1515/jpem-2021-0133

Article

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient

Merve Emecen Sanli , Hacer Ilbilge Ertoy Karagol , Ayse Kilic , Ekin Aktasoglu , Asli Inci , Ilyas Okur , Fatih Ezgu and Leyla Tumer

Published/Copyright: September 27, 2021

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 35 Issue 2

Abstract

Objectives

Enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA) has changed the fatal course of infantile Pompe disease, however, development of anti rhGAA antibodies and infusion-associated reactions (IAR) restrict the tolerability and effectiveness of the treatment.

Case presentation

We describe a successful concomitant immune tolerance induction (ITI) and desensitization protocols in a cross-reactive immunologic material (CRIM) negative 7-month-old male patient. At the age of 5 months and eighth dose of the ERT, the patient developed IAR and his rhGAA specific IgE was negative however, his rhGAA specific IgG titer was as high as 12,800. ITI therapy to suppress antibody formation and a desensitization protocol was devised to be given concomitantly. At the end of 5-week therapy, his fatigue and weakness improved profoundly and a control antidrug antibody level decreased at 800. At the time of the patient’s follow up, he was still on ERT with desensitization at the age of 15 months without any reactions.

Conclusions

This is the first report in the literature applying concomitant ITI and desensitization protocols in a CRIM negative infantile-onset Pompe disease patient successfully, hence the importance of the case.

Keywords: desensitization; enzyme replacement therapy; immunomodulation; Pompe disease

Corresponding author: Merve Emecen Sanli, Department of Pediatric Inborn Errors of Metabolism, Faculty of Medicine, Gazi University, Ankara, Turkey, E-mail: merveemecan@gmail.com

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

References

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Received: 2021-03-09

Accepted: 2021-09-10

Published Online: 2021-09-27

Published in Print: 2022-02-23

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Articles in the same Issue

https://doi.org/10.1515/jpem-2021-0133

Keywords for this article

desensitization; enzyme replacement therapy; immunomodulation; Pompe disease