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Alpha-Mannosidosis: Therapeutic Strategies.

Authors
  • Ceccarini, Maria Rachele1
  • Codini, Michela2
  • Conte, Carmela3
  • Patria, Federica4
  • Cataldi, Samuela5
  • Bertelli, Matteo6
  • Albi, Elisabetta7
  • Beccari, Tommaso8
  • 1 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
  • 2 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
  • 3 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
  • 4 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
  • 5 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
  • 6 MAGI Human Medical Genetics Institute; laboratory of genetic diagnosis of rare diseases, 38068 Rovereto, Italy. [email protected] , (Italy)
  • 7 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
  • 8 Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy. [email protected] , (Italy)
Type
Published Article
Journal
International Journal of Molecular Sciences
Publisher
MDPI AG
Publication Date
May 17, 2018
Volume
19
Issue
5
Identifiers
DOI: 10.3390/ijms19051500
PMID: 29772816
Source
Medline
Keywords
License
Unknown

Abstract

Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I⁻II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis.

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