Evidence map›Paper›PMID 25635234›Full record

ArticlePLoS currents2014

Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits.

Richard T Wang, Cheri A Silverstein Fadlon, J Wes Ulm, Ivana Jankovic, Ascia Eskin, Ake Lu, Vanessa Rangel Miller, Rita M Cantor, Ning Li, Robert Elashoff and 4 more

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

Article in PLoS currents, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02069756 (The Duchenne Registry), which is not on this map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 12% 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.

NCT02069756 recruitingnot on this map

The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)

Typeobservational_patient_registrySponsorThe Duchenne RegistryRan2007 to 2047Enrolled10,000ConditionsDuchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophinopathy, Dystrophinopathy Symptomatic Female Carrier
3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

  1. Pooled it
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  10. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
  11. Article
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  13. Review
  14. A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy.International journal of neonatal screening · 2017
    Article
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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

14 authors at 2 institutions in 1 country.

Richard T WangDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Cheri A Silverstein FadlonDivision of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
J Wes UlmDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Ivana JankovicDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Ascia EskinDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Ake LuDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Vanessa Rangel MillerPatientCrossroads, San Mateo, California, USA.
Rita M CantorDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Ning LiDepartment of Biomathematics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Robert ElashoffDepartment of Biomathematics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Anne S MartinParent Project Muscular Dystrophy, Hackensack, New Jersey, USA.
Holly L PeayParent Project Muscular Dystrophy, Hackensack, New Jersey, USA.
Nancy HalnonPediatric Cardiology, University of California, Los Angeles, California, USA.
Stanley F NelsonDepartment of Human Genetics and Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California, USA;
University of California, Los Angeles · USParent Project Muscular Dystrophy · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
CARDIOVASCULAR SCIENTIST TRAINING PROGRAMT32HL007895 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SHIVKUMAR, KALYANAM, WATSON, KAROL E · 1998 to 2023
$9.2M
UCLA Muscular Dystrophy Core CenterP30AR057230 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SPENCER, MELISSA JAN · 2009 to 2018
$6.2M
NCATS NIH HHS UL1 TR000124NHLBI NIH HHS T32 HL007895NIAMS NIH HHS P30 AR057230
6 · The paper itself

Abstract

To assess the utility of online patient self-report outcomes in a rare disease, we attempted to observe the effects of corticosteroids in delaying age at fulltime wheelchair use in Duchenne muscular dystrophy (DMD) using data from 1,057 males from DuchenneConnect, an online registry. Data collected were compared to prior natural history data in regard to age at diagnosis, mutation spectrum, and age at loss of ambulation. Because registrants reported differences in steroid and other medication usage, as well as age and ambulation status, we could explore these data for correlations with age at loss of ambulation. Using multivariate analysis, current steroid usage was the most significant and largest independent predictor of improved wheelchair-free survival. Thus, these online self-report data were sufficient to retrospectively observe that current steroid use by patients with DMD is associated with a delay in loss of ambulation. Comparing commonly used steroid drugs, deflazacort prolonged ambulation longer than prednisone (median 14 years and 13 years, respectively). Further, use of Vitamin D and Coenzyme Q10, insurance status, and age at diagnosis after 4 years were also significant, but smaller, independent predictors of longer wheelchair-free survival. Nine other common supplements were also individually tested but had lower study power. This study demonstrates the utility of DuchenneConnect data to observe therapeutic differences, and highlights needs for improvement in quality and quantity of patient-report data, which may allow exploration of drug/therapeutic practice combinations impractical to study in clinical trial settings. Further, with the low barrier to participation, we anticipate substantial growth in the dataset in the coming years.

Identifiers

PMID25635234
PMCPMC4207635
OpenAlexW2144272906

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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.