Key result
Exon 8 and 44 skipping mutations linked to ~78% lower risk of ambulation loss in dystrophinopathy.
Why the study?
Quantifying associations between genetic mutations and loss of ambulation in childhood-onset dystrophinopathy is important for understanding variation in disease progression and optimizing clinical trial design.
Do specific genetic mutations predict the time to loss of ambulation in males with childhood-onset dystrophinopathy?
Population
358 males with childhood-onset dystrophinopathy born and diagnosed from 1982 to 2011
Comparison
Genetic mutation types and exon-skipping amenable deletions vs other deletions
Design
Network registry-based cohort study
Authors
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May inform exon-specific LoA prognosis in dystrophinopathy; leaves open prospective validation.
Cohort (n=358)
Yes
Do specific genetic mutations predict the time to loss of ambulation in males with childhood-onset dystrophinopathy?
Effect estimate: HR 0.22 (95% CI 0.08-0.63)
Absolute Event Rate: 14.8% vs 11.6%
In males with childhood-onset dystrophinopathy, deletions in exons 8 and 44 are associated with significantly delayed loss of ambulation compared to other exon deletions.
Haber et al. (2020) conducted a cohort in Childhood-onset dystrophinopathy (n=358). Exon 8 skippable mutations vs. Other exon deletions was evaluated on Age at loss of ambulation (LoA) (HR 0.22, 95% CI 0.08-0.63). Mutations amenable to exon 8 (HR 0.22) and exon 44 (HR 0.30) skipping were associated with a significantly delayed loss of ambulation compared to other exon deletions in males with dystrophinopathy.
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