TY - JOUR
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 - Funding Information:
We are grateful to the Italian Telethon and to the Muscular Dystrophy UK (MDUK) for supporting the Dubowitz Neuromuscular Centre and the Association Francaise for Myopathies for supporting the research therapist in London.
Publisher Copyright:
© 2019 Elsevier B.V.
PY - 2019/11
Y1 - 2019/11
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.
KW - Duchenne Muscular dystrophy
KW - Neuromuscular disorders
KW - North Star Ambulatory Assessment
KW - Outcome measure
UR - http://www.scopus.com/inward/record.url?scp=85073994365&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2019.09.010
DO - 10.1016/j.nmd.2019.09.010
M3 - Article
C2 - 31629611
AN - SCOPUS:85073994365
SN - 0960-8966
VL - 29
SP - 857
EP - 862
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 11
ER -