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1. Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance

Author

Oreto, L, Vita, Gl, Mandraffino, G, Carerj, S, Calabrò, Mp, Manganaro, R, Cusmà-Piccione, M, Todaro, Mc, Sframeli, M, Cinquegrani, M, Toscano, A, Vita, G, Messina, S, and Zito, C.

Subjects
Duchenne muscular dystrophy, Male, Adolescent, Age Factors, Stroke Volume, Walk Test, Motor Activity, Muscular Dystrophy, Duchenne, Duchenne muscular dystrophy, cardiomyopathy, motor performance, speckle tracking echocardiography, strain, Ventricular Dysfunction, Left, strain, Echocardiography, motor performance, Child, Preschool, Humans, Original Article, speckle tracking echocardiography, Child, cardiomyopathy, Retrospective Studies
Abstract

Duchenne muscular dystrophy (DMD) is complicated by an early and progressive left ventricular (LV) dysfunction. Despite the reduction of ejection fraction (EF) usually manifests in the second decade, subtle alterations in LV mechanics can be detected earlier. Longitudinal and circumferential LV deformation, evaluated by speckle tracking echocardiography (STE), are considered sensitive markers of early dysfunction. We retrospectively examined clinical and echocardiographic data of 32 DMD children with preserved LV function. According to the median age, patients were then divided into younger and older than 9 years, and compared to 24 age-matched healthy subjects. Six-minute-walk test (6MWT), North Star Ambulatory Assessment (NSAA), and a comprehensive cardiac evaluation were performed. Although EF was within the normal range, DMD patients had significantly lower values than healthy controls, and the same occurred for the remaining conventional systolic and diastolic indices. Global longitudinal strain (GLS) was reduced in all patients (older and younger, both p < 0.001). Global circumferential strain (GCS) was reduced only in older patients (< 0.001). Both GLS and GCS worsened with age in DMD patients (GLS p = 0.005; GCS p = 0.024). GLS was significantly worse in the apical segments and in the postero-lateral wall. GCS in the antero-septal, anterior and antero-lateral segments was significantly reduced in older patients, with a prevalent involvement of the sole septal wall in the younger boys. 6MWT appeared to be correlated inversely to GLS and directly to EF. A longitudinal evaluation should be scheduled in DMD boys to assess the global cardiac performance over time and to evaluate the impact of therapies.

Published
2020

2. Emergenze respiratorie nelle malattie neurologiche

Author

Vita, G, Mongini, T, Racca, F, Ruggeri, P, Versaci, A, Vianello, A, and Vita, Gl

Subjects
Insufficienza respiratoria acuta, Dispnea, Ipercapnia, Malattie neurologiche, Malattie neuromuscolari, Ipossia
Published
2019

3. Treatment with Ataluren for Duchene Muscular Dystrophy

Author

Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, and Lotze, T.

Subjects
safety, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Neurosurgery, STRIDE, effectiveness, Duchenne Muscular Dystrophy, Pediatrics, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Child Development, STRIDE Registry, International database, Internal medicine, medicine, Humans, In patient, Registries, Child, 030304 developmental biology, Pediatric, 0303 health sciences, Brain Diseases, Oxadiazoles, business.industry, Health Policy, Disease progression, Infant, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Treatment Outcome, chemistry, Neurology, Muscle Disorders, Codon, Nonsense, Neuromuscular, Propensity score matching, dystrophin, Nervous System Diseases, business, 030217 neurology & neurosurgery, Natural history study, Research Article
Abstract

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype–phenotype/–ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan–Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p ≤ 0.05). There were no DMD genotype–phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.

Published
2020

4. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Author

By:mendell, Jr, Goemans, N, Lowes, Lp, Alfano, Ln, Berry, K, Shao, J, Kaye, Em, Mercuri, E, Hamid, Ha, Byrne, Bj, Connolly, Am, Dracker, Ra, Frank, Lm, Heydemann, Pt, O'Brien, Kc, Sparks, Se, Specht, La, Rodino Klapac, L, Sahenk, Z, Al Zaidy, S, Cripe, Lh, Lewis, S, Pane, M, Mazzone, E, Messina, S, Vita, Gl, D'Amico, A, Bertini, Es, Berardinelli, A, Torrente, Y, Magri, F, Comi, Gp, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Bruno, C, Previtali, S., POLITANO, Luisa, By:mendell, Jr, Goemans, N, Lowes, Lp, Alfano, Ln, Berry, K, Shao, J, Kaye, Em, Mercuri, E, Hamid, Ha, Byrne, Bj, Connolly, Am, Dracker, Ra, Frank, Lm, Heydemann, Pt, O'Brien, Kc, Sparks, Se, Specht, La, Rodino Klapac, L, Sahenk, Z, Al Zaidy, S, Cripe, Lh, Lewis, S, Pane, M, Mazzone, E, Messina, S, Vita, Gl, D'Amico, A, Bertini, E, Berardinelli, A, Torrente, Y, Magri, F, Comi, Gp, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Bruno, C, Politano, Luisa, and Previtali, S.

Subjects
Male, Adolescent, Exon, Longitudinal Studie, Walking, Morpholino, Muscular Dystrophy, Duchenne, Alternative Splicing, Outcome Assessment (Health Care), Neurology, Oligonucleotide, Disease Progression, Exercise Test, Neurology (clinical), Mobility Limitation, Child, Human
Abstract

Objective To continue evaluation of the long-term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three-year progression of eteplirsen-treated patients was compared to matched historical controls (HC). Methods Ambulatory DMD patients who were ≥7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received eteplirsen on an open-label basis. The primary functional assessment in this study was the 6-Minute Walk Test (6MWT). Respiratory muscle function was assessed by pulmonary function testing (PFT). Longitudinal natural history data were used for comparative analysis of 6MWT performance at baseline and months 12, 24, and 36. Patients were matched to the eteplirsen group based on age, corticosteroid use, and genotype. Results At 36 months, eteplirsen-treated patients (n = 12) demonstrated a statistically significant advantage of 151m (p < 0.01) on 6MWT and experienced a lower incidence of loss of ambulation in comparison to matched HC (n = 13) amenable to exon 51 skipping. PFT results remained relatively stable in eteplirsen-treated patients. Eteplirsen was well tolerated. Analysis of HC confirmed the previously observed change in disease trajectory at age 7 years, and more severe progression was observed in patients with mutations amenable to exon skipping than in those not amenable. The subset of patients amenable to exon 51 skipping showed a more severe disease course than those amenable to any exon skipping. Interpretation Over 3 years of follow-up, eteplirsen-treated patients showed a slower rate of decline in ambulation assessed by 6MWT compared to untreated matched HC.

Published
2016

6. Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric, molecular and clinical, double-blind, placebo-controlled study

Author

Morandi L, Abiusi E, Pasanisi MB, Lomastro R, Fiori S, Di Pietro L, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Vita GL, Messina S, Passamano L, Di Gregorio G, Tiziano FD, POLITANO, Luisa, Morandi, L, Abiusi, E, Pasanisi, Mb, Lomastro, R, Fiori, S, Di Pietro, L, Angelini, C, Sorarù, G, Gaiani, A, Mongini, T, Vercelli, L, Vasco, G, Vita, G, Vita, Gl, Messina, S, Politano, Luisa, Passamano, L, Di Gregorio, G, and Tiziano, Fd

Published
2013

7. 6 Min walk test 12 month changes in DMD: correlation with the genotype

Author

Pane M, Mazzone E, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro P, Frosini S, Bello L, De Sanctis R, Fanelli L, Rolle E, Bianco F, Magri F, Vita GL, Motta MC, Donati MA, Mongini T, Pini a, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Comi GP, Bertini E, Mercuri E., POLITANO, Luisa, Pane, M, Mazzone, E, Sormani, Mp, Scalise, R, Berardinelli, A, Messina, S, Torrente, Y, D'Amico, A, Doglio, L, Viggiano, E, D'Ambrosio, P, Cavallaro, P, Frosini, S, Bello, L, De Sanctis, R, Fanelli, L, Rolle, E, Bianco, F, Magri, F, Vita, Gl, Motta, Mc, Donati, Ma, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, and Mercuri, E.

Published
2013

8. Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD

Author

Mendell, Jerry R, Goemans, Nathalie, Lowes, Linda P, Alfano, Lindsay N, Berry, Katherine, Shao, James, Kaye, Edward M, Mercuri, Eugenio, Pane, M, Mazzone, E, Messina, S, Vita, Gl, D'Amico, A, Berardinelli, A, Torrente, Y, Magri, F, Comi, Gp, Baranello, G, Mongini, Tiziana Enrica, Pini, A, Battini, R, Pegoraro, E, Bruno, C, Politano, L, Previtali, S, Hamid, Ha, Byrne, Bj, Connolly, Am, Dracker, Ra, Frank, Lm, Heydemann, Pt, O'Brien, Kc, Sparks, Se, Specht, La, Rodino Klapac, L, Sahenk, Z, Al Zaidy, S, Cripe, Lh, and Lewis, S.

Subjects
2'O-methyl-ribonucleoside phosphorothioate, 6MWT, Duchenne muscular dystrophy (DMD), eteplirsen, phosphorodiamidate morpholino oligomer (PMO), exon skipping, historical control
Published
2015

9. Phase-II multicenter double-blind, placebo-controlled study of tolerability and efficacy of salbutamol in adult type III SMA patients

Author

Tiziano FD, Lomastro R, Di Pietro L, Pasanisi MB, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Vita G, Vita GL, Messina S, Passamano L, Di Gregorio G, Campanella A, Mantegazza R, Neri G, Brahe C, Morandi L., POLITANO, Luisa, Tiziano, Fd, Lomastro, R, Di Pietro, L, Pasanisi, Mb, Fiori, S, Angelozzi, C, Abiusi, E, Angelini, C, Sorarù, G, Gaiani, A, Mongini, T, Vercelli, L, Mercuri, E, Vasco, G, Vita, G, Vita, Gl, Messina, S, Politano, Luisa, Passamano, L, Di Gregorio, G, Campanella, A, Mantegazza, R, Neri, G, Brahe, C, and Morandi, L.

Published
2012

10. Earlier cardiomyopathy onset in DMD patients carrying the TT genotype at SPP1 rs28357094

Author

Barp A, Bello L, Piva L, Sorarù G, Melacini P, Calore C, Polo A, Ferlini L, Peterle E, Gaiani A, Comi G, Magri F, Taglia A, Picillo E, Messina S, Vita GL, Vita G, Gorni K, Hoffmann EP, Angelini C, Pegoraro E., POLITANO, Luisa, Barp, A, Bello, L, Piva, L, Sorarù, G, Melacini, P, Calore, C, Polo, A, Ferlini, L, Peterle, E, Gaiani, A, Comi, G, Magri, F, Taglia, A, Picillo, E, Politano, Luisa, Messina, S, Vita, Gl, Vita, G, Gorni, K, Hoffmann, Ep, Angelini, C, and Pegoraro, E.

Published
2012

11. Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs Becker muscular dystrphy: an italian comparative study

Author

Magliano, L, D'Angelo, Mg, Vita, G, Pane, M, D'Amico, A, Balottin, U, Angelini, C, Battini, R, Politano, L, Patalano M: Sagliocchi, A, Civatio, F, Brighina, E, Vita, Gl, Messina, S, Sframeli, M, Lombardo, Me, Scalise, R, Colia, G, Catteruccia, M, Berardinelli, A, Motta, Mc, Gaiani, A, Semplicini, C, Bello, L, Astrea, G, Zaccaro, A, and Scutifero, M

Published
2014

21. Burden, professional support, and social network in families of children and young adults with muscular dystrophies

Author

Alessandra Sagliocchi, Corrado Angelini, Marika Pane, Angela Berardinelli, Luisa Politano, Gian Luca Vita, Michela Catteruccia, Umberto Balottin, Adele D'Amico, Sonia Messina, Roberta Battini, Maria Grazia D'Angelo, Maria Sframeli, Maria Chiara Motta, Lorenza Magliano, Erika Brighina, Giuseppe Vita, Maria Elena Lombardo, Luca Bello, Alessandra Gaiani, Antonella Zaccaro, Melania Patalano, Claudio Semplicini, Marianna Scutifero, Federica Civati, Giulia Colia, Roberta Scalise, Guja Astrea, Magliano, Lorenza, Patalano, M, Sagliocchi, A, Scutifero, M, Zaccaro, A, D'Angelo, Mg, Civati, F, Brighina, E, Vita, G, Vita, Gl, Messina, S, Sframeli, M, Pane, M, Lombardo, Me, Scalise, R, D'Amico, A, Colia, G, Catteruccia, M, Balottin, U, Berardinelli, A, Chiara Motta, M, Angelini, C, Gaiani, A, Semplicini, C, Bello, L, Battini, R, Astrea, G, and Politano, Luisa

Subjects
Male, Physiology, Muscular Dystrophies, professional support, Surveys and Questionnaires, Young adult, Child, caregiving, family burden, muscular dystrophy, social network, Adolescent, Adult, Aged, Aged, 80 and over, Child, Preschool, Family, Female, Humans, Italy, Middle Aged, Questionnaires, Regression Analysis, Socioeconomic Factors, Young Adult, Professional-Patient Relations, Social Support, Research Articles, media_common, support, Sadness, Feeling, caregivingfamily burdenmuscular dystrophyprofessional supportsocial network, Psychology, Research Article, medicine.medical_specialty, media_common.quotation_subject, Cellular and Molecular Neuroscience, Social support, Muscle nerve, Physiology (medical), medicine, In patient, Psychiatry, Social network, business.industry, muscular dystrophie, Professional support, Neurology (clinical), business
Abstract

Introduction: This study explores burden and social and professional support in families of young patients with muscular dystrophies (MDs) in Italy. Methods: The study was carried out on 502 key relatives of 4‐ to 25‐year‐old patients suffering from Duchenne, Becker, or Limb‐Girdle MD who were living with at least 1 adult relative. Results: A total of 77.1% of relatives reported feelings of loss, 74.0% had feelings of sadness, and 59.1% had constraints in leisure activities. Burden was higher among relatives of patients with higher disability and who spent more daily hours in caregiving. Practical difficulties were higher among relatives who perceived lower help in patient emergencies and less practical support by their social network. Psychological burden was higher in those relatives who were unemployed, those with poorer support in emergencies, and those with lower social contacts. Conclusions: Caring for patients with MDs may be demanding for relatives even in the early stages of these disorders, especially when social support is poor and the patient's disability increases. Muscle Nerve 52: 13–21, 2015

Published
2015

22. 'I have got something positive out of this situation': psychological benefits of caregiving in relatives of young people with muscular dystrophy

Author

Corrado Angelini, Roberta Battini, Luisa Politano, Michela Catteruccia, Giulia Colia, Gian Luca Vita, Guja Astrea, Claudio Semplicini, Adele D'Amico, Maria Chiara Motta, Maria Grazia D'Angelo, Erika Brighina, Maria Elena Lombardo, Antonella Zaccaro, Marianna Scutifero, Luca Bello, Lorenza Magliano, Roberta Scalise, Umberto Balottin, Giuseppe Vita, Alessandra Sagliocchi, Maria Sframeli, Giulia Ricci, Alessandra Gaiani, Marika Pane, Angela Berardinelli, Sonia Messina, Federica Civati, Melania Patalano, Magliano, Lorenza, Patalano, M, Sagliocchi, A, Scutifero, M, Zaccaro, A, D'Angelo, Mg, Civati, F, Brighina, E, Vita, G, Vita, Gl, Messina, S, Sframeli, M, Pane, M, Lombardo, Me, Scalise, R, D'Amico, A, Colia, G, Catteruccia, M, Balottin, U, Berardinelli, A, Motta, Mc, Angelini, C, Gaiani, A, Semplicini, C, Bello, L, Battini, R, Astrea, G, Ricci, G, and Politano, Luisa

Subjects
Male, Activities of daily living, psychological benefit, Muscular Dystrophies, Cost of Illness, Surveys and Questionnaires, Activities of Daily Living, 80 and over, Young adult, Child, media_common, Aged, 80 and over, Social network, Original Communication, Middle Aged, Professional support, Test (assessment), Caregivers, Italy, Neurology, Child, Preschool, Caregiving, Female, medicine.symptom, Clinical psychology, Adult, medicine.medical_specialty, Weakness, Adolescent, media_common.quotation_subject, Clinical Neurology, MEDLINE, Stress, Young Adult, Social support, Perception, medicine, Humans, Family, Psychological benefits, Preschool, Psychiatry, Muscular dystrophy, Aged, Analysis of Variance, Social Support, Stress, Psychological, Neurology (clinical), business.industry, Psychological, business
Abstract

This paper focuses on the psychological benefits of caregiving in key relatives of patients with muscular dystrophies (MD), a group of rare diseases characterized by progressive weakness and restriction of the patient's functional abilities. We describe whether relatives perceived caregiving to be a positive experience and test whether relatives' perceptions vary in relation to their view of the patient as a valued person, the degree of involvement in care, and the level of support provided by social network and professionals. The study sample included 502 key relatives of patients aged 4-25 years, suffering from Duchenne, Becker, or limb-girdle MD, in treatment for at least 6 months to one of the eight participating centers, living with at least one relative aged 18-80 years. Of key relatives, 88 % stated that they had gotten something positive out of the situation, 96 % considered their patients to be sensitive, and 94 % viewed their patients as talented. Positive aspects of caregiving were more recognized by key relatives who were more convinced that the patient was sensitive and who perceived that they received higher level of professional help and psychological social support. These results suggest that most key relatives consider that their caregiving experience has had a positive impact on their lives, despite the practical difficulties of caring for patients with MD. Professionals should help relatives to identify the benefits of caregiving without denying its difficulties. Clinicians themselves should develop positive attitudes towards family involvement in the care of patients with long-term diseases.

Published
2013

23. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Author

P Boffi, Corrado Angelini, Luisa Politano, Guja Astrea, Eugenio Mercuri, Adele D'Amico, Tiziana Mongini, Marika Pane, Alessandra Ferlini, Giuseppe Vita, Sara Napolitano, Mario Ermani, Yvan Torrente, Francesca Gualandi, Antonella Taglia, Gaetano S. Grieco, Gian Luca Vita, Gianni Sorarù, Eric P. Hoffman, Angela Berardinelli, Andrea Barp, Esther Picillo, Gessica Vasco, Claudio Bruno, Roberta Battini, Stefano C. Previtali, Enrico Bertini, Giacomo P. Comi, Francesca Magri, Sonia Messina, Luca Bello, Luisa Piva, Maria Chiara Motta, Maria Sframeli, Carlo Minetti, Elisabetta Gazzerro, Elena Pegoraro, Bello, L, Piva, L, Barp, A, Taglia, A, Picillo, E, Vasco, G, Pane, M, Previtali, Sc, Torrente, Y, Gazzerro, E, Motta, Mc, Grieco, G, Napolitano, S, Magri, F, D'Amico, A, Astrea, G, Messina, S, Sframeli, M, Vita, Gl, Boffi, P, Mongini, T, Ferlini, A, Gualandi, F, Soraru', G, Ermani, M, Vita, G, Battini, R, Bertini, E, Comi, Gp, Berardinelli, A, Minetti, C, Bruno, C, Mercuri, E, Politano, Luisa, Angelini, C, Hoffman, Ep, and Pegoraro, E.

Subjects
Adult, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Genotype, medicine, Humans, Multicenter Studies as Topic, Longitudinal Studies, Muscular Dystrophy, Polymorphism, Child, Preschool, Retrospective Studies, Clinical Trials as Topic, business.industry, Genetic Variation, Retrospective cohort study, Articles, Single Nucleotide, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Clinical trial, Child, Preschool, Ambulatory, Cohort, Physical therapy, Osteopontin, Neurology (clinical), business, Student's t-test
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.

Published
2012

24. Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

Author

Maria Sframeli, Valentina Lanzillotta, Gian Luca Vita, Antonella Pini, Grazia D'Angelo, Concetta Palermo, Adele D'Amico, Roberta Petillo, Elena Iotti, Maria Pia Sormani, Enrico Bertini, Filippo Cavallaro, Serena Sivo, Flaviana Bianco, Adelina Carlesi, Giovanni Baranello, Elena S. Mazzone, Marika Pane, Emanuela Viggiano, Enrica Rolle, Giorgia Olivieri, Tiziana Mongini, Angela Berardinelli, Roberto De Sanctis, Roberta Battini, Eugenio Mercuri, Andrea Barp, Ksenija Gorni, Alice Gardani, Marianna Scutifero, Elena Pegoraro, Serena Bonfiglio, Lavinia Fanelli, Luca Bello, Luisa Politano, Claudio Bruno, Silvia Frosini, Sonia Messina, Pane, M, Fanelli, L, Mazzone, E, Olivieri, G, D'Amico, A, Messina, S, Scutifero, M, Battini, R, Petillo, R, Frosini, S, Sivo, S, Vita, Gl, Bruno, C, Mongini, T, Pegoraro, E, De Sanctis, R, Gardani, A, Berardinelli, A, Lanzillotta, V, Carlesi, A, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Bianco, F, Bonfiglio, S, Rolle, E, Palermo, C, D'Angelo, G, Pini, A, Iotti, E, Gorni, K, Baranello, G, Bertini, E, Politano, Luisa, Sormani, Mp, and Mercuri, E.

Subjects
Male, Longitudinal study, Pediatrics, Neurology, Duchenne muscular dystrophy, Elbow, Glucocorticoids, Non ambulant, PUL, Upper limb, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Genetics(clinical), Longitudinal Studies, Muscular Dystrophy, Young adult, Child, steroid, Perinatology and Child Health, medicine.anatomical_structure, Treatment Outcome, Cohort, Adolescent, Adult, Humans, Muscular Dystrophy, Duchenne, Recovery of Function, Upper Extremity, Young Adult, Glucocorticoid, medicine.drug, medicine.medical_specialty, Clinical Neurology, Article, DMD, medicine, Pediatrics, Perinatology, and Child Health, business.industry, medicine.disease, Duchenne, Physical therapy, business
Abstract

Highlights • The paper reports the effect of steroids on upper limb function in non ambulant DMD boys. • Boys continuing steroids after loss of ambulation perform better than those who stopped at the time of loss of ambulation. • The Performance of Upper Limb test can reliably capture change over time and the effect of intervention., The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years. All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, 25 stopped steroids at the time they lost ambulation and 18 were GC naïve or had steroids while ambulant for less than a year. At baseline the total scores ranged between 0 and 74 (mean 41.20). The mean total scores were 47.92 in the glucocorticoid group, 36 in those who stopped at loss of ambulation and 30.5 in the naïve group (p

Published
2015

25. 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes

Author

Claudio Bruno, Tiziana Mongini, Silvia Frosini, Sonia Messina, Enrica Rolle, Stefano C. Previtali, Francesca Gualandi, Roberto De Sanctis, Marika Pane, Gian Luca Vita, Filippo Cavallaro, Adele D'Amico, Paola D'Ambrosio, Angela Berardinelli, Roberta Battini, Luca Bello, Giovanni Baranello, Lucia Morandi, Giacomo P. Comi, Luisa Politano, Maria Teresa Arnoldi, Enrico Bertini, Elena S. Mazzone, Francesca Rossi, Concetta Palermo, Nathalie Goemans, Marlene Van der Haawue, Antonella Pini, Maria Alice Donati, Alessandra Ferlini, Yvan Torrente, Elena Pegoraro, Chiara Alfonsi, Roberta Scalise, Maria Pia Sormani, Eugenio Mercuri, Francesca Magri, Serena Bonfiglio, Michele Sacchini, Valentina Lanzillotta, Sara Napolitano, Lavinia Fanelli, Flaviana Bianco, Emanuela Viggiano, Pane, M, Mazzone, E, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Scalise, R, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Morandi, L, Gualandi, F, Ferlini, A, Goemans, N, and Mercuri, E.

Subjects
Male, Time Factors, Duchenne muscular dystrophy, Muscular Dystrophies, Cohort Studies, Dystrophin, inglese, Muscular dystrophy, Child, Multidisciplinary, Statistics, Neuromuscular Diseases, Neurology, Child, Preschool, Cohort, Observational Studies, Medicine, Cohort study, Research Article, Test Evaluation, medicine.medical_specialty, Adolescent, Clinical Research Design, Science, Nonsense mutation, changes, Biostatistics, walking, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genetic Mutation, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Biology, Clinical Genetics, business.industry, Point mutation, Human Genetics, X-Linked, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Mutation, Physical therapy, Observational study, business, Mathematics
Abstract

ObjectiveIn the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period.MethodsThe 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later. The results were analysed using a test for heterogeneity in order to establish possible differences among different types of mutations (deletions, duplications, point mutations) and among subgroups of deletions eligible to skip individual exons.ResultsAt baseline the 6MWD ranged between 180 and 560,80 metres (mean 378,06, SD 74,13). The 12 month changes ranged between -325 and 175 (mean -10.8 meters, SD 69.2). Although boys with duplications had better results than those with the other types of mutations, the difference was not significant. Similarly, boys eligible for skipping of the exon 44 had better baseline results and less drastic changes than those eligible for skipping exon 45 or 53, but the difference was not significant.Conclusionseven if there are some differences among subgroups, the mean 12 month changes in each subgroup were all within a narrow Range: from the mean of the whole DMD cohort. This information will be of help at the time of designing clinical trials with small numbers of eligible patients.

Published
2014

26. The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

Author

Emanuela Viggiano, Gian Luca Vita, Roberta Petillo, Alice Gardani, Tiziana Mongini, Enrico Bertini, Giulia Colia, Maria Sframeli, Eugenio Mercuri, Alessandra Graziano, Elena Pegoraro, Ksenija Gorni, Sonia Messina, Elena S. Mazzone, Filippo Cavallaro, Fabio Busato, Marika Pane, Enrica Rolle, Angela Berardinelli, Claudio Bruno, Giovanni Baranello, Concetta Palermo, Alice Corlatti, Valentina Lanzillotta, Andrea Barp, Silvia Frosini, Roberta Scalise, Lavinia Fanelli, Francesca Brustia, Serena Bonfiglio, Flaviana Bianco, Luisa Politano, Luca Bello, Roberta Battini, Grazia D'Angelo, Marina Pedemonte, Roberto De Sanctis, Marianna Scutifero, Antonella Pini, Adele D'Amico, Laura Antonaci, Serena Sivo, Annamaria Bonetti, Pane, M, Mazzone, E, Sivo, S, Fanelli, L, De Sanctis, R, D'Amico, A, Messina, S, Battini, R, Bianco, F, Scutifero, M, Petillo, R, Frosini, S, Scalise, R, Vita, Gl, Bruno, C, Pedemonte, M, Mongini, T, Pegoraro, E, Brustia, F, Gardani, A, Berardinelli, A, Lanzillotta, V, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Busato, F, Bonfiglio, S, Rolle, E, Colia, G, Bonetti, A, Palermo, C, Graziano, A, D'Angelo, G, Pini, A, Corlatti, A, Gorni, K, Baranello, G, Antonaci, L, Bertini, E, Politano, Luisa, and Mercuri, E.

Subjects
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys, medicine.medical_specialty, Early signs, business.industry, Duchenne muscular dystrophy, Medicine (miscellaneous), Upper limb involvement, medicine.disease, medicine.anatomical_structure, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physical therapy, medicine, Upper limb, 6-minute walk test, In patient, Muscular Dystrophy, business, 6 min walking test
Abstract

The Performance of Upper Limb (PUL) test was specifically developed for the assessment of upper limbs in Duchenne muscular dystrophy (DMD). The first published data have shown that early signs of involvement can also be found in ambulant DMD boys. The aim of this longitudinal Italian multicentric study was to evaluate the correlation between the 6 Minute Walk Test (6MWT) and the PUL in ambulant DMD boys. Both 6MWT and PUL were administered to 164 ambulant DMD boys of age between 5.0 and 16.17 years (mean 8.82). The 6 minute walk distance (6MWD) ranged between 118 and 557 (mean: 376.38, SD: 90.59). The PUL total scores ranged between 52 and 74 (mean: 70.74, SD: 4.66). The correlation between the two measures was 0.499. The scores on the PUL largely reflect the overall impairment observed on the 6MWT but the correlation was not linear. The use of the PUL appeared to be less relevant in the very strong patients with 6MWD above 400 meters, who, with few exceptions had near full scores. In patients with lower 6MWD the severity of upper limb involvement was more variable and could not always be predicted by the 6MWD value or by the use of steroids. Our results confirm that upper limb involvement can already be found in DMD boys even in the ambulant phase.

Published
2014

27. Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: An Italian comparative study

Author

Magliano, Lorenza, D Angelo, Maria Grazia, Vita, Giuseppe, Pane, Marika, D Amico, Adele, Balottin, Umberto, Angelini, Corrado, Battini, Roberta, Politano, Luisa, Patalano, Melania, Sagliocchi, Alessandra, Civati, Federica, Brighina, Erika, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Lombardo, Maria Elena, Scalise, Roberta, Colia, Giulia, Catteruccia, Maria, Berardinelli, Angela, Motta, Maria Chiara, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Guja Astrea, Zaccaro, Antonella, Scutifero, Marianna, Magliano, Lorenza, D'Angelo, Mg, Vita, G, Pane, M, D'Amico, A, Balottin, U, Angelini, C, Battini, R, Politano, Luisa, Patalano, M, Sagliocchi, A, Civati, F, Brighina, E, Vita, Gl, Messina, S, Sframeli, M, Lombardo, Me, Scalise, R, Colia, G, Catteruccia, M, Berardinelli, A, Motta, Mc, Gaiani, A, Semplicini, C, Bello, L, Astrea, G, Zaccaro, A, and Scutifero, M.

Subjects
musculoskeletal diseases, Duchenne muscular dystrophy, Adult, Parents, muscular dystrophy, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, healthy siblings, burden, Cost of Illness, parents, healthy siblings, Humans, Becker muscular dystrophy, social network, Child, Child, Preschool, Family, Italy, Middle Aged, Siblings, Social Support, Socioeconomic Factors, Caregivers, Family Health, Muscular Dystrophy, Duchenne, Preschool, Original Articles, Duchenne, family burden
Abstract

This study explored the burden in parents and healthy siblings of 4-17 year-old patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, and whether the burden varied according to clinical aspects and social resources. Data on socio-demographic characteristics, patient's clinical history, parent and healthy children burden, and on parent's social resources were collected using self-reported questionnaires administered to 336 parents of patients with DMD (246) and BMD (90). Parents of patients with DMD reported higher burden than those of patients with BMD, especially concerning feeling of loss (84.3% DMD vs. 57.4% BMD), stigma (44.2% DMD vs. 5.5% BMD) and neglect of hobbies (69.0% DMD vs. 32.5% BMD). Despite the burden, 66% DMD and 62.4% BMD parents stated the caregiving experience had a positive impact on their lives. A minority of parents believed MD has a negative influence on the psychological well-being (31.0% DMD vs. 12.8% BMD), and social life of unaffected children (25.7% vs. 18.4%). In the DMD group, burden correlated with duration of illness and parent age, and burden was higher among parents with lower social contacts and support in emergencies. In DMD, difficulties among healthy children were reported as higher by parents who were older, had higher burden and lower social contacts. In both groups, burden increased in relation to patient disability. These findings underline that the psychological support to be provided to parents of patients with MD, should take into account clinical features of the disease.

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