Skip to main content
Log in

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa

  • Brief Communication
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment. We report on two patients (respectively 12 and 3 months old) with infantile-onset Pompe disease and severe cardiomyopathy, that presented with severe reactions during infusion of enzyme replacement therapy and were successfully desensitized with a new individualized protocol. Our protocol, using microdilution and a premedication with antihistamines, corticosteroids, and tranexamic acid, seems safe and effective and it may allow the continuation of therapy in Pompe patients resulting in the reduction of morbidity and mortality related to this disease.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Hirschhorn R, AJJ R (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A et al (eds) The metabolic & molecular bases of inherited disease, vol 8. McGrawHill, New York, pp 3389–3420

    Google Scholar 

  2. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR et al (2009) Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 11(3):210–219

    Article  CAS  PubMed  Google Scholar 

  3. Zanichelli A, Azin GM, Wu MA, Suffritti C, Maggioni L, Caccia S et al (2017) Diagnosis, course, and management of angioedema in patients with acquired C1-inhibitor deficiency. J Allergy Clin Immunol Pract 5(5):1307–1313

    Article  PubMed  Google Scholar 

  4. Gallay L, Petiot P, Durieu I, Streichenberger N, Berard F (2016) SWORD: a simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease. Neuromuscul Disord 26(11):801–804

    Article  PubMed  Google Scholar 

  5. Cernadas JR, Brockow K, Romano A, Aberer W, Torres MJ, Bircher A et al (2010) General considerations on rapid desensitization for drug hypersensitivity - a consensus statement. Allergy 65(11):1357–1366

    Article  CAS  PubMed  Google Scholar 

  6. Karagol IH, Bakirtas A, Yilmaz O, Topal E, Kucukcongar A, Ezgu FS et al (2014) Desensitisation of the youngest patient with Pompe disease in response to alglucosidase alfa. Allergol Immunopathol (Madr) 42(4):372–375

    Article  CAS  Google Scholar 

  7. El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P et al (2011) An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. Mol Genet Metab 104(1–2):118–122

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Baruteau J, Broomfield A, Crook V, Finnegan N, Harvey K, Burke D et al (2014) Successful desensitisation in a patient with CRIM-positive infantile-onset Pompe disease. JIMD Rep 12:99–102

    Article  CAS  Google Scholar 

  9. Lipinski SE, Lipinski MJ, Burnette A, Platts-Mills TA, Wilson WG (2009) Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa. Mol Genet Metab 98(3):319–321

    Article  CAS  PubMed  Google Scholar 

  10. Capanoglu M, Dibek Misirlioglu E, Azkur D, Vezir E, Guvenir H, Gunduz M et al (2016) IgE mediated hypersensitivity and desensitisation with recombinant enzymes in Pompe disease and type I and type VI mucopolysaccharidosis. Int Arch Allergy Immunol 169(3):198–202

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to R. Della Casa.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

ESM 1

(DOCX 12 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Gragnaniello, V., Fecarotta, S., Pecoraro, A. et al. Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa. Neurol Sci 40, 1453–1455 (2019). https://doi.org/10.1007/s10072-019-03744-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-019-03744-3

Keywords

Navigation