Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
Articolo
Data di Pubblicazione:
2012
Citazione:
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy / L. Bello, L. Piva, A. Barp, A. Taglia, E. Picillo, G. Vasco, M. Pane, S.C. Previtali, Y. Torrente, E. Gazzerro, M.C. Motta, G.S. Grieco, S. Napolitano, F. Magri, A. D'Amico, G. Astrea, S. Messina, M. Sframeli, G.L. Vita, P. Boffi, T. Mongini, A. Fellini, F. Gualandi, G. Soraru, M. Ermani, G. Vita, R. Battini, E. Bertini, G.P. Comi, A. Berardinelli, C. Minetti, C. Bruno, E. Mercuri, L. Politano, C. Angelini, E.P. Hoffman, E. Pegoraro. - In: NEUROLOGY. - ISSN 0028-3878. - 79:2(2012 Jun 27), pp. 159-162.
Abstract:
Objective: To test the effect of the single nucleotide polymorphism 66 T G (rs28357094) in
the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy
(DMD).
Methods: This study was conducted on a cohort of ambulatory patients with DMD from a network
of Italian neuromuscular centers, evaluated longitudinally with the North Star Ambulatory Assessment
(NSAA) and the 6-Minute Walk Test (6MWT) at study entry and after 12 months. Genotype
at rs28357094 was determined after completion of the clinical evaluations. Patients were
stratified in 2 groups according to a dominant model (TT homozygotes vs TG heterozygotes and
GG homozygotes) and clinical data were retrospectively compared between groups.
Results: Eighty patients were selected (age 4.1–19.3 years; mean 8.3 2.7 SD). There were no
differences in age or steroid treatment between the 2 subgroups. Paired t test showed a significant
difference in both NSAA (p 0.013) and 6MWT (p 0.03) between baseline and follow-up
after 12 months in patients with DMD carrying the G allele. The difference was not significant in
the T subgroup. The analysis of covariance using age and baseline values as covariate and SPP1
genotype as fixed effect showed that these parameters are significantly correlated with the 12-
month values.
Conclusions: These data provide evidence of the role of SPP1 genotype as a disease modifier in
DMD and support its relevance in the selection of homogeneous groups of patients for future
clinical trials
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
L. Bello, L. Piva, A. Barp, A. Taglia, E. Picillo, G. Vasco, M. Pane, S.C. Previtali, Y. Torrente, E. Gazzerro, M.C. Motta, G.S. Grieco, S. Napolitano, F. Magri, A. D'Amico, G. Astrea, S. Messina, M. Sframeli, G.L. Vita, P. Boffi, T. Mongini, A. Fellini, F. Gualandi, G. Soraru, M. Ermani, G. Vita, R. Battini, E. Bertini, G.P. Comi, A. Berardinelli, C. Minetti, C. Bruno, E. Mercuri, L. Politano, C. Angelini, E.P. Hoffman, E. Pegoraro
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