Longitudinal natural history in young boys with Duchenne muscular dystrophy

Giorgia Coratti, Claudia Brogna, Giulia Norcia, Valeria Ricotti, Lianne Abbott, Adele D'Amico, Angela Berardinelli, Gian Luca Vita, Simona Lucibello, Sonia Messina, Valeria Sansone, Emilio Albamonte, Giulia Colia, Francesca Salmin, Alice Gardani, Adnan Manzur, Marion Main, Giovanni Baranello, Maria Teresa Arnoldi, Julie ParsonsTerri Carry, Anne M Connolly, Enrico Bertini, Francesco Muntoni, Marika Pane, Eugenio Mercuri

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Abstract

The aim of this prospective multicentric study was to document disease progression in young boys affected by Duchenne muscular dystrophy (DMD) between age 3 and 6 years (±3 months) using the North Star Ambulatory Assessment scale. One hundred fifty-three DMD boys (573 assessments) younger than 6 years (mean: 4.68, SD: 0.84) with a genetically proven DMD diagnoses were included. Our results showed North Star Ambulatory Assessment scores progressively increased with age. The largest increase was observed between age 3 and 4 years but further increase was steadily observed until age of 6 years. Using a multiple linear regression analysis, we found that both the use of corticosteroids and the site of mutation significantly contributed to the North Star Ambulatory Assessment changes (p <0.001). At each age point, boys on corticosteroid treatment had higher scores than corticosteroid naïve ones (p <0.001). Similarly, patients with mutations downstream exon 44, had lower baseline scores and lower magnitude of changes compared to those with mutations located at the 5' end of the gene (p <0,001). Very few boys achieved the age appropriate maximum score. These results provide useful information for the assessment and counselling of young DMD boys and for the design of clinical trials in this age group.
Original languageEnglish
Pages (from-to)857-862
Number of pages6
JournalNeuromuscular Disorders
Volume29
Issue number(11)
DOIs
Publication statusPublished - 2019

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Coratti, G., Brogna, C., Norcia, G., Ricotti, V., Abbott, L., D'Amico, A., Berardinelli, A., Vita, G. L., Lucibello, S., Messina, S., Sansone, V., Albamonte, E., Colia, G., Salmin, F., Gardani, A., Manzur, A., Main, M., Baranello, G., Arnoldi, M. T., ... Mercuri, E. (2019). Longitudinal natural history in young boys with Duchenne muscular dystrophy. Neuromuscular Disorders, 29((11)), 857-862. https://doi.org/10.1016/j.nmd.2019.09.010