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Updated: Jan 5, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Longitudinal natural history in young boys with Duchenne muscular dystrophy
Giorgia Coratti1, Claudia Brogna1, Giulia Norcia2
1Paediatric Neurology, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Insights
Disease progression in Duchenne muscular dystrophy (DMD) boys aged 3-6 years shows North Star Ambulatory Assessment scores increase with age. Corticosteroid use and mutation site impact these changes, informing clinical trial design.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Duchenne muscular dystrophy (DMD) is a progressive genetic disorder affecting young boys.
- Early assessment of disease progression is crucial for managing DMD and designing clinical trials.
- The North Star Ambulatory Assessment (NSAA) scale is used to evaluate functional abilities in DMD patients.
Purpose of the Study:
- To document the disease progression in young boys with DMD between the ages of 3 and 6 years.
- To identify factors influencing disease progression as measured by the NSAA scale.
- To provide data for the assessment, counseling, and clinical trial design for young DMD patients.
Main Methods:
- Prospective, multicentric study involving 153 DMD boys aged 3-6 years.
- 573 NSAA assessments were conducted.
- Multiple linear regression analysis was used to identify factors affecting NSAA scores.
Main Results:
- NSAA scores progressively increased with age, with the largest gains between 3-4 years.
- Corticosteroid treatment and mutation site significantly influenced NSAA changes (p < 0.001).
- Boys on corticosteroids and those with mutations at the 5' end of the gene showed better outcomes.
Conclusions:
- Disease progression in young DMD boys is characterized by increasing NSAA scores until age 6.
- Corticosteroid use and specific mutation locations are key determinants of functional outcomes.
- Findings support the use of NSAA for monitoring DMD progression and optimizing clinical trial strategies.
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.
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