Evidence map›Paper›PMID 34937785›Full record

Observational studyNeurology2022

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.

Alberto A Zambon, Megan A Waldrop, Roxane Alles, Robert B Weiss, Sara Conroy, Melissa Moore-Clingenpeel, Stefano Previtali, Kevin M Flanigan, Italian DMD Network and the United Dystrophinopathy Project

Open access · greenAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.6field-weighted citation impact, top 34% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 10 citations in OpenAlex.

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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

9 authors at 1 institution in 1 country.

Alberto A ZambonFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.ORCID 0000-0002-6539-5360
Megan A WaldropFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.ORCID 0000-0001-9621-8319
Roxane AllesFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.
Robert B WeissFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.ORCID 0000-0002-3188-3569
Sara ConroyFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.ORCID 0000-0001-9155-9456
Melissa Moore-ClingenpeelFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.
Stefano PrevitaliFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City.ORCID 0000-0003-2546-4357
Kevin M FlaniganFrom Inspe and Division of Neuroscience (A.A.Z., S.P.), IRCCS Ospedale San Raffaele, Milan, Italy; The Center for Gene Therapy, Abigail Wexner Research Institute (M.A.W., R.A., K.M.F.), and Biostatistics Research Core (S.C., M.M.-C.), Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology (M.A.W., K.M.F.), Ohio State University Medical Center, Columbus; and Department of Human Genetics (R.B.W.), University of Utah, Salt Lake City. kevin.flanigan@nationwidechildrens.org.ORCID 0000-0001-6440-3376
Italian DMD Network and the United Dystrophinopathy Project
Nationwide Children's Hospital · US

Funding

Genetic modifiers of Duchenne Muscular DystrophyR01NS085238 · NINDS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI KEVIN M FLANIGAN, VERONICA J. VIELAND · 2014 to 2026
$8.6M
NINDS NIH HHS R01 NS085238
6 · The paper itself

Abstract

BACKGROUND AND

objectivesTo describe the phenotypic spectrum of dystrophinopathy in a large cohort of individuals with

methodsIn this retrospective observational study, we analyzed data from large genotype-phenotype databases (the United Dystrophinopathy Project [UDP] and the Italian DMD network) and classified participants into Duchenne muscular dystrophy (DMD), intermediate muscular dystrophy (IMD), or Becker muscular dystrophy (BMD) phenotypes. Log-rank tests for time-to-event variables were used to compare age at loss of ambulation (LOA) in participants with Dup2 vs controls without Dup2 in the UDP database and for comparisons between steroid-treated vs steroid-naive participants with Dup2.

resultsAmong 66 participants with Dup2 (UDP = 40, Italy = 26), 61% were classified as DMD, 9% as IMD, and 30% as BMD. Median age at last observation was 15.4 years (interquartile range 8.79-26.0) and 75% had been on corticosteroids for at least 6 months. Age at LOA differed significantly between participants with Dup2 DMD and historical controls without Dup2 DMD ( DISCUSSION: Some patients with Dup2 display a milder disease course than controls without Dup2 DMD, and prolonged ambulation with corticosteroids suggests the potential of IRES activation as a molecular mechanism. As Dup2-targeted therapies reach clinical applications, this information is critical to aid in the interpretation of the efficacy of new treatments.

Indexed as

Muscular Dystrophy, DuchenneCohort StudiesDystrophinExonsHumansPhenotypeWalkingDystrophin

Identifiers

PMID34937785
PMCPMC8865888
OpenAlexW4200339453

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.