ArticleAnnals of neurology2012
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Article in Annals of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 465 papers, 3 of them syntheses that pooled it.
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.
Phase I/IIa Gene Transfer Clinical Trial for Duchenne Muscular Dystrophy Using rAAVrh74.MCK.GALGT2
Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, PK and PD of SQY51 in Paediatric and Adult Patients With a Genetically Confirmed Diagnosis of Duchenne Muscular Dystrophy
Who cites it
465 citing papers in PubMed, 3 syntheses or guidelines pooled it, 807 citations in OpenAlex.
- Discovering Promising Biomarkers and Therapeutic Targets for Duchenne Muscular Dystrophy: a Multiomics Meta-Analysis Approach.Molecular neurobiology · 2024Pooled it
- Cell Therapy Strategies on Duchenne Muscular Dystrophy: A Systematic Review of Clinical Applications.Stem cell reviews and reports · 2024Pooled it
- The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review.Orphanet journal of rare diseases · 2021Pooled it
- Trial
- Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.Journal of neuromuscular diseases · 2024Trial
- Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status.Journal of comparative effectiveness research · 2023Trial
- Trial
- Quantitative MRI Assessment of Myotoxin-Induced Skeletal Muscle Damage of mdx Mice.Muscle & nerve · 2026Article
- Neuropsychological and Emotional-Behavioral Profiles in Pediatric Duchenne Muscular Dystrophy: A Single-Center Clinical Study.Children (Basel, Switzerland) · 2026Article
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy.European journal of human genetics : EJHG · 2026Article
- AAV-mediated gene transfer of a novel microdystrophin ameliorates pathology and enhances muscle function in a mouse model of DMD.Molecular therapy. Nucleic acids · 2026Article
- Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study.European journal of neurology · 2026Article
- Identification of biomarkers associated with pathological dynamic progression in dystrophinopathies.Scientific reports · 2026Article
- Gene Editing Strategies for Duchenne Muscular Dystrophy: From Molecular Mechanisms to Clinical Translation.Cells · 2026Review
- Current and Emerging Therapeutic Strategies for the Treatment of Duchenne Muscular Dystrophy.Genes · 2026Review
- Obestatin: canonical and unexpected functions.Reviews in endocrine & metabolic disorders · 2026Review
- Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study.Translational pediatrics · 2026Article
- RNA Therapeutics for Duchenne Muscular Dystrophy: Exon Skipping, RNA Editing, and Translational Insights from Genome-Edited Microminipig Models.International journal of molecular sciences · 2026Review
- Voluntary running sustains the correction of inflammation-related gene expression conferred by AAV gene therapy in mdx mice.Molecular therapy. Advances · 2026Article
- Preclinical evaluation of INS1201 AAV9-micro-dystrophin via CSF administration as a potential therapy for Duchenne muscular dystrophy.Molecular therapy. Advances · 2026Article
405 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 1 country.
Funding
Abstract
objectiveCreatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing.
methodsA fluorometric assay based upon the enzymatic transphosphorylation of adenosine diphosphate to adenosine triphosphate was used to measure CK activity. Preliminary studies established a population-based range of CK in newborns using 30,547 deidentified anonymous dried blood spot samples. Mutation analysis used genomic DNA extracted from the dried blood spot followed by whole genome amplification with assessment of single-/multiexon deletions/duplications in the DMD gene using multiplex ligation-dependent probe amplification.
resultsDMD gene mutations (all exonic deletions) were found in 6 of 37,649 newborn male subjects, all of whom had CK levels>2,000U/l. In 3 newborns with CK>2,000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP.
interpretationA 2-tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations.
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What OpenQuestion holds
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.