TY - JOUR
T1 - Efficacy of Miglustat in Niemann-Pick C disease
T2 - A single centre experience
AU - Ginocchio, Virginia Maria
AU - D'Amico, Adele
AU - Bertini, Enrico
AU - Ceravolo, Ferdinando
AU - Dardis, Andrea
AU - Verrigni, Daniela
AU - Bembi, Bruno
AU - Dionisi-Vici, Carlo
AU - Deodato, Federica
PY - 2013/11
Y1 - 2013/11
N2 - Niemann-Pick disease type C (NPC) is a lysosomal storage disease characterized by progressive neurological degeneration. Miglustat is the first approved specific therapy and its efficacy in stabilizing or slowing disease progression has been demonstrated in previous studies. We evaluated data from 10 NPC patients treated with Miglustat in a single study centre. All disease manifestations were assessed and patients were stratified according to age at onset of neurological symptoms. Neurological data were recorded by using a modified version of the NP-C disability scale; a "composite score" and a "mean annual change" were calculated to evaluate disease progression. We observed a mean annual change of the composite score of 0.04 in our cohort, indicating slower progression of neurological symptoms if compared with the natural history of the disease. The evidence of slower disease evolution in patients treated with Miglustat suits with previous data and here it is also emphasized by the comparison between disease progression in two early-infantile onset patients receiving different Miglustat dosages. Evaluation of the mean annual change for individual subgroups of patients evidenced minor values in juvenile patients, highlighting better response in such class of patients. Among individual neurological parameters, swallowing showed the minor mean annual change (0.02), indicating better response to therapy. We underline the importance of using a standardized disability scale to quantify and compare neurological features and their evolution over time.
AB - Niemann-Pick disease type C (NPC) is a lysosomal storage disease characterized by progressive neurological degeneration. Miglustat is the first approved specific therapy and its efficacy in stabilizing or slowing disease progression has been demonstrated in previous studies. We evaluated data from 10 NPC patients treated with Miglustat in a single study centre. All disease manifestations were assessed and patients were stratified according to age at onset of neurological symptoms. Neurological data were recorded by using a modified version of the NP-C disability scale; a "composite score" and a "mean annual change" were calculated to evaluate disease progression. We observed a mean annual change of the composite score of 0.04 in our cohort, indicating slower progression of neurological symptoms if compared with the natural history of the disease. The evidence of slower disease evolution in patients treated with Miglustat suits with previous data and here it is also emphasized by the comparison between disease progression in two early-infantile onset patients receiving different Miglustat dosages. Evaluation of the mean annual change for individual subgroups of patients evidenced minor values in juvenile patients, highlighting better response in such class of patients. Among individual neurological parameters, swallowing showed the minor mean annual change (0.02), indicating better response to therapy. We underline the importance of using a standardized disability scale to quantify and compare neurological features and their evolution over time.
KW - Disability scale
KW - Dysphagia
KW - Epilepsy
KW - Mean annual change
KW - Miglustat
KW - Niemann-Pick type C
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U2 - 10.1016/j.ymgme.2013.07.019
DO - 10.1016/j.ymgme.2013.07.019
M3 - Article
C2 - 23973268
AN - SCOPUS:84885435534
VL - 110
SP - 329
EP - 335
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 3
ER -