Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations - different outcome?

We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and ce...

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Bibliographic Details
Published in:Clinical genetics 2016-01, Vol.89 (1), p.88-92
Main Authors: Politei, J., Schenone, A.B., Cabrera, G., Heguilen, R., Szlago, M.
Format: Article
Language:English
Subjects:
Adolescent
agalsidade beta
agalsidase alfa
alpha-Galactosidase - chemistry
alpha-Galactosidase - genetics
alpha-Galactosidase - therapeutic use
Brain - metabolism
Brain - pathology
Chemistry, Pharmaceutical
Child
Codon
Enzyme Replacement Therapy
Enzymes
Exons
Fabry disease
Fabry Disease - diagnosis
Fabry Disease - drug therapy
Fabry Disease - genetics
Female
Genetic disorders
Glomerular Filtration Rate
Humans
Magnetic Resonance Imaging
Male
Mutation
NMR
Nuclear magnetic resonance
Pain
Pain Measurement
Treatment Outcome
Young Adult
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Summary:We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular functioning. Pain scale showed improvement in all male cases treated with agalsidasa beta. A mild improvement was detected in agalsidasa alfa‐treated patients after 1 year with posterior increase. During the agalsidase beta shortage, two male patients were switched to agalsidasa alfa, after 1 year both cases presented an increase in scale values. Renal evolution showed a tendency toward a decrease in proteinuria in patients using agalsidase beta and worsening with agalsidase alfa. We found improvement in two females using agalsidase beta and no changes in the other cases regarding cardiac functioning. Brain magnetic resonance imaging (MRI) showed increase of white matter lesions in four patients. Improvement and stabilization in neuropathic pain, renal and cardiac functioning and brain MRI were found mainly in patients treated with agalsidase beta. Following the reported recommendations on reintroduction of agalsidase beta after the enzyme shortage, we decided to switch all patients to agalsidase beta.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12590