Evidence map›Paper›PMID 23340516›Full record

ArticleEuropean journal of human genetics : EJHG2013

Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Stuart J Moat, Donald M Bradley, Rachel Salmon, Angus Clarke, Louise Hartley

Registry-linked trialOpen access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05753462 (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), which is not on this map. Cited by 136 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 7 pooled it
4.8field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

NCT05753462 phase1 / phase2unknown statusnot on this mapstarted 2023, after this paper: background citation

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

TypeinterventionalSponsorSqy TherapeuticsRan2023 to 2025Enrolled12ConditionsDuchenne Muscular DystrophyArmsPhase 1, SQY51, Phase 2a, SQY51 (cohort 1), Phase 2a, SQY51 (cohort 2), Phase 2a, SQY51 (cohort 3)
3 · Its place in the literature

Who cites it

136 citing papers in PubMed, 7 syntheses or guidelines pooled it, 261 citations in OpenAlex.

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76 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Stuart J MoatWales Newborn Screening Laboratory, Department of Medical Biochemistry and Immunology, University Hospital Wales, Cardiff, Wales, UK.
Donald M Bradley
Rachel Salmon
Angus Clarke
Louise Hartley
University Hospital of Wales · GBCardiff University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis is made in an index case. An 'opt in' screening programme was introduced in Wales in 1990 with the aim to: reduce the diagnostic delay, permit reproductive choice and allow planning of the care of the affected boy. Newborn bloodspots were collected routinely as part of the Wales newborn screening programme. Specific consent was obtained for this test separately from the other tests. During the 21-year period, 369,780 bloodspot cards were received from male infants, of these 343,170 (92.8%) were screened using a bloodspot creatine kinase (CK) assay following parental consent. A total of 145 cases had a raised CK activity (≥250 U/l) and at follow-up, at 6-8 weeks of age, 79 cases had a normal serum CK (false-positive rate 0.023%) and 66 cases had an elevated serum CK. DMD was confirmed in 56 cases by genotyping/muscle biopsy studies, Becker muscular dystrophy in 5 cases and other rarer forms of muscular dystrophy in 5 cases. This long-term study has so far identified 13 false-negative cases. The incidence of DMD in Wales of 1:5136 during this period is lower than that of 1:4046 before commencement of screening in Wales. Screening has reduced the diagnostic delay enabling reproductive choice for parents of affected boys and earlier administration of current therapies.

Indexed as

Genetic TestingNeonatal ScreeningCreatine KinaseGenotyping TechniquesHumansInfant, NewbornMaleMuscular Dystrophy, DuchenneSensitivity and SpecificityWalesCreatine Kinase

Identifiers

PMID23340516
PMCPMC3778339
OpenAlexW2009324880

What OpenQuestion holds

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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.