Trial reportNeurology2018
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.
Trial report in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02090959 (A Phase 3 Extension Study of Ataluren), which is not on this map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy
Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Relationships betweenNeurology · 2019Trial
- Influence of community disadvantage on cognitive performance in son-mother dyads in Duchenne muscular dystrophy.Brain communications · 2026Article
- Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.Annals of clinical and translational neurology · 2025Article
- Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2023Article
- Longitudinal motor function in proximal versus distal DMD pathogenic variants.Muscle & nerve · 2021Article
- Longitudinal Evaluation of Working Memory in Duchenne Muscular Dystrophy.Journal of clinical medicine · 2020Article
- Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).Cellular and molecular life sciences : CMLS · 2020Review
- The NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).
methodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span backward (d-sb) scores to the location of nmDMD mutations in 169 participants ≥5 to ≤20 years who participated in a phase 2b clinical trial. Because alternative promoters are found upstream of
resultsParticipants with nm downstream of exon 30, downstream of exon 45, and downstream of exon 63 had significantly lower normalized d-sf scores (
conclusionOur data provide evidence that specific cognitive deficits correlate to genotype in individuals with nmDMD, highlighting the critical role of brain-specific dystrophin isoforms in the neurobiological manifestations of this disease. CLINICALTRIALSGOV IDENTIFIER: NCT02090959.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.