Artikel
Morphological changes in muscle biopsies from patients with infantile and juvenile Pompe disease as a potential predictive marker for enzyme replacement therapy
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Veröffentlicht: | 11. September 2012 |
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Gliederung
Text
Patients with Pompe disease (glycogen storage disease type II) exhibit a variable degree of vacuolar myopathy with pathological glycogen deposits. Importantly, patients differ in their response to enzyme replacement therapy (ERT). In this study, we characterised and correlated the morphological changes with the clinical outcome following ERT. We analysed the muscle biopsies of 3 infantile and 2 juvenile patients with a second biopsy in 4 cases under ERT for at least 10 month. PAS stained cryosections and semithinsections were analysed for glycogendeposits with morphometric methods and the morphological alterations were classified with a modified score. Importantly, our results show that patients with a high degree of morphological changes in the initial muscle biopsy show a worse response to ERT as compared to patients with low initial pathology. These data suggest that the morphological characterisation of a muscle biopsy from patients with Pompe disease may predict the response to ERT and may therefore serve as a novel and potentially important predictive marker to direct the treatment of patients with Pompe disease. We plan on validating this hypothesis in a follow-up investigation of a larger group of patients.