Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Jul;191(7):1948-1952.
doi: 10.1002/ajmg.a.63210. Epub 2023 Apr 12.

First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis

Lucia Santoro  1 , Chiara Monachesi  1 , Lucia Zampini  1 , Lucia Padella  1 , Tiziana Galeazzi  1 , Elena Santori  1 , Rosanna Cordiali  1 , Andrea Dardis  2 , Carlo Catassi  1   3 , Emilia Boccieri  4 , Federica Galaverna  4 , Franco Locatelli  4   5
Affiliations
Case Reports

First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis

Lucia Santoro et al. Am J Med Genet A. 2023 Jul.

Abstract

We describe the first case of bridge therapy in alpha-mannosidosis (AM) in an infant diagnosed at only 5 months of life who underwent enzyme replacement therapy (ERT) in the pre- and peri-transplant phases. Eight ERT infusions were administered before hematopoietic stem cell transplantation (HSCT) and continued for additional 90 days until complete engraftment. The clinical and laboratory data after 3 years post-HSCT show that the early combined intervention may reduce the disease progression and the urine and plasma content of mannosyl-oligosaccharides (OS) monitored by liquid chromatography tandem mass spectrometry (LC-MS/MS). This report highlights that early diagnosis and prompt initiation of such treatments in AM are the best chance to minimize the progression of symptoms.

Keywords: enzyme replacement therapy; hematopoietic stem cell transplantation; mannosyl-oligosaccharides; velmanase alfa.

PubMed Disclaimer

References

REFERENCES

    1. Adam, J., Malone, R., Lloyd, S., Lee, J., Hendriksz, C. J., & Ramaswami, U. (2019). Disease progression of alpha-mannosidosis and impact on patients and carers-A UK natural history survey. Molecular Genetics and Metabolism Reports, 8(20), 100480. https://doi.org/10.1016/j.ymgmr.2019.100480
    1. Beck, M., Olsen, K. J., Wraith, J. E., Zeman, J., Michalski, J. C., Saftig, P., Fogh, J., & Malm, D. (2013). Natural history of alpha mannosidosis a longitudinal study. Orphanet Journal of Rare Diseases, 20(8), 88. https://doi.org/10.1186/1750-1172-8-88
    1. Borgwardt, L., Guffon, N., Amraoui, Y., Dali, C. I., De Meirleir, L., Gil-Campos, M., Heron, B., Geraci, S., Ardigò, D., Cattaneo, F., Fogh, J., Van den Hout, J. M. H., Beck, M., Jones, S. A., Tylki-Szymanska, A., Haugsted, U., & Lund, A. M. (2018). Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: Results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial. Journal of Inherited Metabolic Disease, 41(6), 1215-1223. https://doi.org/10.1007/s10545-018-0185-0
    1. Ceccarini, M. R., Codini, M., Conte, C., Patria, F., Cataldi, S., Bertelli, M., Albi, E., & Beccari, T. (2018). Alpha-mannosidosis: Therapeutic strategies. International Journal of Molecular Sciences, 19(5), 1500. https://doi.org/10.3390/ijms19051500
    1. de Ru, M. H., Boelens, J. J., Das, A. M., Jones, S. A., van der Lee, J. H., Mahlaoui, N., Mengel, E., Offringa, M., O'Meara, A., Parini, R., Rovelli, A., Sykora, K. W., Valayannopoulos, V., Vellodi, A., Wynn, R. F., & Wijburg, F. A. (2011). Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: Results of a European consensus procedure. Orphanet Journal of Rare Diseases, 10(6), 55. https://doi.org/10.1186/1750-1172-6-55

Publication types

LinkOut - more resources