13 results on '"Bruno, Claudio"'
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2. Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
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Pera, Maria Carmela, primary, Coratti, Giorgia, additional, Berti, Beatrice, additional, D’Amico, Adele, additional, Sframeli, Maria, additional, Albamonte, Emilio, additional, de Sanctis, Roberto, additional, Messina, Sonia, additional, Catteruccia, Michela, additional, Brigati, Giorgia, additional, Antonaci, Laura, additional, Lucibello, Simona, additional, Bruno, Claudio, additional, Sansone, Valeria A., additional, Bertini, Enrico, additional, Tiziano, Danilo, additional, Pane, Marika, additional, and Mercuri, Eugenio, additional
- Published
- 2020
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3. North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
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Coratti, Giorgia, Pane, Marika, Brogna, Claudia, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C., Politano, Luisa, and Comi, Giacomo P.
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DUCHENNE muscular dystrophy ,DISEASE progression ,CLINICAL trials - Abstract
Introduction: The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and methods: We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and 28 exon 53, not recruited in any ongoing clinical trials. Five patients were counted to skip exon 51 and 53 since they had a single deletion of exon 52. Results: The difference between subgroups (skip 44, 45, 51 and 53) was significant at 12 (p = 0.043), 24 (p = 0.005) and 36 months (p≤0.001). Discussion: Mutations amenable to skip exons 53 and 51 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had higher scores both at baseline and at follow up. Conclusion: Our results confirm different progression of disease in subgroups of patients with deletions amenable to skip different exons. This information is relevant as current long term clinical trials are using the NSAA in these subgroups of mutations. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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4. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
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Pane, Marika, primary, Coratti, Giorgia, additional, Brogna, Claudia, additional, Mazzone, Elena Stacy, additional, Mayhew, Anna, additional, Fanelli, Lavinia, additional, Messina, Sonia, additional, D’Amico, Adele, additional, Catteruccia, Michela, additional, Scutifero, Marianna, additional, Frosini, Silvia, additional, Lanzillotta, Valentina, additional, Colia, Giulia, additional, Cavallaro, Filippo, additional, Rolle, Enrica, additional, De Sanctis, Roberto, additional, Forcina, Nicola, additional, Petillo, Roberta, additional, Barp, Andrea, additional, Gardani, Alice, additional, Pini, Antonella, additional, Monaco, Giulia, additional, D’Angelo, Maria Grazia, additional, Zanin, Riccardo, additional, Vita, Gian Luca, additional, Bruno, Claudio, additional, Mongini, Tiziana, additional, Ricci, Federica, additional, Pegoraro, Elena, additional, Bello, Luca, additional, Berardinelli, Angela, additional, Battini, Roberta, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Baranello, Giovanni, additional, Bertini, Enrico, additional, Politano, Luisa, additional, Sormani, Maria Pia, additional, and Mercuri, Eugenio, additional
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- 2018
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5. Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
- Author
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Brogna, Claudia, Coratti, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D’Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C., Politano, Luisa, and Comi, Giacomo P.
- Subjects
DUCHENNE muscular dystrophy ,NATURAL history ,MEDICAL genetics - Abstract
Introduction: The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and methods: Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53. Results: The difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01). Discussion: Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases. Conclusion: Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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6. Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study
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Mazzone, Elena S., primary, Coratti, Giorgia, additional, Sormani, Maria Pia, additional, Messina, Sonia, additional, Pane, Marika, additional, D'Amico, Adele, additional, Colia, Giulia, additional, Fanelli, Lavinia, additional, Berardinelli, Angela, additional, Gardani, Alice, additional, Lanzillotta, Valentina, additional, D’Ambrosio, Paola, additional, Petillo, Roberta, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Bello, Luca, additional, Bonfiglio, Serena, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Forcina, Nicola, additional, Magri, Francesca, additional, Vita, Gianluca, additional, Palermo, Concetta, additional, Donati, Maria Alice, additional, Procopio, Elena, additional, Arnoldi, Maria Teresa, additional, Baranello, Giovanni, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Torrente, Yvan, additional, Previtali, Stefano C., additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo P., additional, D’Angelo, Maria Grazia, additional, Bertini, Enrico, additional, and Mercuri, Eugenio, additional
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- 2016
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7. Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
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Pane, Marika, primary, Mazzone, Elena Stacy, additional, Sivo, Serena, additional, Sormani, Maria Pia, additional, Messina, Sonia, additional, D′Amico, Adele, additional, Carlesi, Adelina, additional, Vita, Gianluca, additional, Fanelli, Lavinia, additional, Berardinelli, Angela, additional, Torrente, Yvan, additional, Lanzillotta, Valentina, additional, Viggiano, Emanuela, additional, D′Ambrosio, Paola, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Barp, Andrea, additional, Bonfiglio, Serena, additional, Scalise, Roberta, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Graziano, Alessandra, additional, Magri, Francesca, additional, Palermo, Concetta, additional, Rossi, Francesca, additional, Donati, Maria Alice, additional, Sacchini, Michele, additional, Arnoldi, Maria Teresa, additional, Baranello, Giovanni, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Previtali, Stefano, additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo P., additional, Bertini, Enrico, additional, and Mercuri, Eugenio, additional
- Published
- 2015
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8. Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
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Pane, Marika, primary, Mazzone, Elena Stacy, additional, Sivo, Serena, additional, Sormani, Maria Pia, additional, Messina, Sonia, additional, D′Amico, Adele, additional, Carlesi, Adelina, additional, Vita, Gianluca, additional, Fanelli, Lavinia, additional, Berardinelli, Angela, additional, Torrente, Yvan, additional, Lanzillotta, Valentina, additional, Viggiano, Emanuela, additional, D′Ambrosio, Paola, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Barp, Andrea, additional, Bonfiglio, Serena, additional, Scalise, Roberta, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Graziano, Alessandra, additional, Magri, Francesca, additional, Palermo, Concetta, additional, Rossi, Francesca, additional, Donati, Maria Alice, additional, Sacchini, Michele, additional, Arnoldi, Maria Teresa, additional, Baranello, Giovanni, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Previtali, Stefano, additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo P., additional, Bertini, Enrico, additional, and Mercuri, Eugenio, additional
- Published
- 2014
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9. 6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes
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Pane, Marika, primary, Mazzone, Elena S., additional, Sormani, Maria Pia, additional, Messina, Sonia, additional, Vita, Gian Luca, additional, Fanelli, Lavinia, additional, Berardinelli, Angela, additional, Torrente, Yvan, additional, D'Amico, Adele, additional, Lanzillotta, Valentina, additional, Viggiano, Emanuela, additional, D'Ambrosio, Paola, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Bello, Luca, additional, Bonfiglio, Serena, additional, Scalise, Roberta, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Bianco, Flaviana, additional, Van der Haawue, Marlene, additional, Magri, Francesca, additional, Palermo, Concetta, additional, Rossi, Francesca, additional, Donati, Maria Alice, additional, Alfonsi, Chiara, additional, Sacchini, Michele, additional, Arnoldi, Maria Teresa, additional, Baranello, Giovanni, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Previtali, Stefano C., additional, Napolitano, Sara, additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo P., additional, Bertini, Enrico, additional, Morandi, Lucia, additional, Gualandi, Francesca, additional, Ferlini, Alessandra, additional, Goemans, Nathalie, additional, and Mercuri, Eugenio, additional
- Published
- 2014
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10. Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy
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Mazzone, Elena Stacy, primary, Pane, Marika, additional, Sormani, Maria Pia, additional, Scalise, Roberta, additional, Berardinelli, Angela, additional, Messina, Sonia, additional, Torrente, Yvan, additional, DâAmico, Adele, additional, Doglio, Luca, additional, Viggiano, Emanuela, additional, DâAmbrosio, Paola, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Bello, Luca, additional, Bonfiglio, Serena, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Bianco, Flaviana, additional, Magri, Francesca, additional, Rossi, Francesca, additional, Vasco, Gessica, additional, Vita, GianLuca, additional, Motta, Maria Chiara, additional, Donati, Maria Alice, additional, Sacchini, Michele, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Previtali, Stefano, additional, Napolitano, Sara, additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo Pietro, additional, Bertini, Enrico, additional, and Mercuri, Eugenio, additional
- Published
- 2013
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11. 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy
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Mazzone, Elena Stacy, primary, Pane, Marika, additional, Sormani, Maria Pia, additional, Scalise, Roberta, additional, Berardinelli, Angela, additional, Messina, Sonia, additional, Torrente, Yvan, additional, D’Amico, Adele, additional, Doglio, Luca, additional, Viggiano, Emanuela, additional, D’Ambrosio, Paola, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Bello, Luca, additional, Bonfiglio, Serena, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Bianco, Flaviana, additional, Magri, Francesca, additional, Rossi, Francesca, additional, Vasco, Gessica, additional, Vita, GianLuca, additional, Motta, Maria Chiara, additional, Donati, Maria Alice, additional, Sacchini, Michele, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Previtali, Stefano, additional, Napolitano, Sara, additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo Pietro, additional, Bertini, Enrico, additional, and Mercuri, Eugenio, additional
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- 2013
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12. Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
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Brogna, Claudia, Coratt, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D’Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C., Politano, Luisa, and Comi, Giacomo P.
- Published
- 2019
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13. Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
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Coratti G, Lenkowicz J, Norcia G, Lucibello S, Ferraroli E, d'Amico A, Bello L, Pegoraro E, Messina S, Ricci F, Mongini T, Berardinelli A, Masson R, Previtali SC, D'angelo G, Magri F, Comi GP, Politano L, Passamano L, Vita G, Sansone VA, Albamonte E, Panicucci C, Bruno C, Pini A, Bertini E, Patarnello S, Pane M, and Mercuri E
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- Adrenal Cortex Hormones therapeutic use, Child, Child, Preschool, Humans, Male, Mutation, Protein Isoforms genetics, Dystrophin genetics, Muscular Dystrophy, Duchenne drug therapy, Muscular Dystrophy, Duchenne genetics
- Abstract
The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range., Competing Interests: The authors have declared that no competing interests exist.
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- 2022
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