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

Research output: Contribution to journalArticle

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)
Early online dateSep 26 2019
DOIs
Publication statusPublished - 2019

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Duchenne Muscular Dystrophy
Natural History
Adrenal Cortex Hormones
Mutation
Disease Progression
Counseling
Exons
Linear Models
Age Groups
Regression Analysis
Clinical Trials
Prospective Studies
Genes

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Longitudinal natural history in young boys with Duchenne muscular dystrophy. / Coratti, Giorgia; Brogna, Claudia; Norcia, Giulia; Ricotti, Valeria; Abbott, Lianne; D'Amico, Adele; Berardinelli, Angela; Vita, Gian Luca; Lucibello, Simona; Messina, Sonia; Sansone, Valeria; Albamonte, Emilio; Colia, Giulia; Salmin, Francesca; Gardani, Alice; Manzur, Adnan; Main, Marion; Baranello, Giovanni; Arnoldi, Maria Teresa; Parsons, Julie; Carry, Terri; Connolly, Anne M; Bertini, Enrico; Muntoni, Francesco; Pane, Marika; Mercuri, Eugenio.

In: Neuromuscular Disorders, Vol. 29, No. (11), 2019, p. 857-862.

Research output: Contribution to journalArticle

Coratti, G, Brogna, C, Norcia, G, Ricotti, V, Abbott, L, D'Amico, A, Berardinelli, A, Vita, GL, Lucibello, S, Messina, S, Sansone, V, Albamonte, E, Colia, G, Salmin, F, Gardani, A, Manzur, A, Main, M, Baranello, G, Arnoldi, MT, Parsons, J, Carry, T, Connolly, AM, Bertini, E, Muntoni, F, Pane, M & Mercuri, E 2019, 'Longitudinal natural history in young boys with Duchenne muscular dystrophy', Neuromuscular Disorders, vol. 29, no. (11), pp. 857-862. https://doi.org/10.1016/j.nmd.2019.09.010
Coratti, Giorgia ; Brogna, Claudia ; Norcia, Giulia ; Ricotti, Valeria ; Abbott, Lianne ; D'Amico, Adele ; Berardinelli, Angela ; Vita, Gian Luca ; Lucibello, Simona ; Messina, Sonia ; Sansone, Valeria ; Albamonte, Emilio ; Colia, Giulia ; Salmin, Francesca ; Gardani, Alice ; Manzur, Adnan ; Main, Marion ; Baranello, Giovanni ; Arnoldi, Maria Teresa ; Parsons, Julie ; Carry, Terri ; Connolly, Anne M ; Bertini, Enrico ; Muntoni, Francesco ; Pane, Marika ; Mercuri, Eugenio. / Longitudinal natural history in young boys with Duchenne muscular dystrophy. In: Neuromuscular Disorders. 2019 ; Vol. 29, No. (11). pp. 857-862.
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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 na{\"i}ve 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.",
author = "Giorgia Coratti and Claudia Brogna and Giulia Norcia and Valeria Ricotti and Lianne Abbott and Adele D'Amico and Angela Berardinelli and Vita, {Gian Luca} and Simona Lucibello and Sonia Messina and Valeria Sansone and Emilio Albamonte and Giulia Colia and Francesca Salmin and Alice Gardani and Adnan Manzur and Marion Main and Giovanni Baranello and Arnoldi, {Maria Teresa} and Julie Parsons and Terri Carry and Connolly, {Anne M} and Enrico Bertini and Francesco Muntoni and Marika Pane and Eugenio Mercuri",
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T1 - Longitudinal natural history in young boys with Duchenne muscular dystrophy

AU - Coratti, Giorgia

AU - Brogna, Claudia

AU - Norcia, Giulia

AU - Ricotti, Valeria

AU - Abbott, Lianne

AU - D'Amico, Adele

AU - Berardinelli, Angela

AU - Vita, Gian Luca

AU - Lucibello, Simona

AU - Messina, Sonia

AU - Sansone, Valeria

AU - Albamonte, Emilio

AU - Colia, Giulia

AU - Salmin, Francesca

AU - Gardani, Alice

AU - Manzur, Adnan

AU - Main, Marion

AU - Baranello, Giovanni

AU - Arnoldi, Maria Teresa

AU - Parsons, Julie

AU - Carry, Terri

AU - Connolly, Anne M

AU - Bertini, Enrico

AU - Muntoni, Francesco

AU - Pane, Marika

AU - Mercuri, Eugenio

N1 - Copyright © 2019 Elsevier B.V. All rights reserved.

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

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JO - Neuromuscular Disorders

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