Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.
Hematopoietic cell transplantation
alpha mannosidosis
enzyme replacement therapy
liquid chromatography coupled with tandem mass spectrometry
oligosaccharides
thin layer chromatography
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
12
02
2020
revised:
18
05
2020
accepted:
20
05
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
10
9
2020
Statut:
epublish
Résumé
Alpha mannosidosis is an ultrarare pathology with variable phenotypic manifestations, characterized by the deficiency of lysosomal alpha mannosidase which causes accumulation of neutral oligosaccharides. Until recently, the hematopoietic stem cell transplantation was the only clinical feasible therapeutic option. Only in 2018, the European Medicines Agency's committee approved the recombinant enzyme velmanase alfa for long-term treatment of non-neurological manifestations in mild and moderate forms of alpha-mannosidosis. In this study, the very early biochemical effects of enzyme replacement therapy in in a 7-month-old patient with alpha-mannosidosis were described. Velmanase alpha was administered as supporting therapy awaiting for hematopoietic stem cell transplantation, the treatment chosen for the patient because of the early onset form. The results showed that the enzyme replacement therapy was able to reduce the content of three different mannosyl-oligosaccharides monitored by tandem mass spectrometry after 2 months of treatment. In particular, the mean relative changes from baseline values were -67% in urine and -53% in serum at the latest observation. The study also showed that the enzymatic activity detected in serum 1 week after the first infusion was four times higher than the normal values and constant in the following points of observation. These findings led us to assume that velmanase alfa might be biologically active in this young patient.
Identifiants
pubmed: 32905047
doi: 10.1002/jmd2.12144
pii: JMD212144
pmc: PMC7463052
doi:
Types de publication
Case Reports
Langues
eng
Pagination
15-21Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
L. S., L. Z., L. P., C. M., S. Z., A. D., R. C., T. G., and C. C. declare that they have no conflict of interest.
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