The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

Journal of Neurology, Neurosurgery, and Psychiatry
Valeria RicottiUK NorthStar Clinical Network

Abstract

With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials. The aims of this study were to assess the effects produced on motor function by different DMD genotypes and early initiation of glucocorticoids. Through the NorthStar Network, standardised clinical data including the NorthStar Ambulatory Assessment score (NSAA) on 513 ambulant UK boys with DMD were analysed from 2004 to 2012. For the analysis of the genetic subpopulation, we also included data from 172 Italian boys with DMD. NSAA raw scores were converted into linear scores. On the linearised NSAA, we observed an average decline of 8 units/year (4 units on raw NSAA analysis) after age 7. The median age at loss of ambulation (LOA) was 13 years (95% CI 12.1 to 13.5); 2 years prior to LOA, the estimated mean linearised NSAA score was 42/100 (13/34 raw scale). Starting glucocorticoids between 3 and 5 years conferred an additional gain in motor function of 3 units/year (1.3 raw units) up to age 7. When analysing the effect of genotype in the UK and Italian cumulative cohorts, individuals with deletions amenable to exons 44 and 46 skipping declined...Continue Reading

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Citations

Nov 21, 2015·Neuromuscular Disorders : NMD·Valeria RicottiThomas Voit
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Jul 22, 2015·Journal of Neuromuscular Diseases·Annemieke Aartsma-Rus, Pietro Spitali
Nov 19, 2021·Frontiers in Pharmacology·Theodora MarkatiLaurent Servais

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Methods Mentioned

BETA
biopsy

Software Mentioned

NorthStar Ambulatory Assessment
Stata

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