Evidence map›Paper›PMID 40237364›Full record

ArticleAnnals of clinical and translational neurology2025

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.

Stephanie M Hunn, Lindsay N Alfano, Aileen Jones, Amanda Butler, Linda P Lowes, Megan A Iammarino, Natalie F Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence and 20 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
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

30 authors.

Stephanie M HunnWashington University School of Medicine, St. Louis, Missouri, USA.ORCID https://orcid.org/0009-0006-0064-9178
Lindsay N AlfanoThe Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID https://orcid.org/0000-0002-2263-7569
Aileen JonesVirginia Commonwealth University, Richmond, Virginia, USA.
Amanda ButlerVirginia Commonwealth University, Richmond, Virginia, USA.
Linda P LowesThe Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Megan A IammarinoThe Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Natalie F ReashThe Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Lindsay PietruszewskiThe Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Sandhya SasidharanUniversity of Kansas Medical Center, Kansas City, Kansas, USA.
Melissa CurrenceUniversity of Kansas Medical Center, Kansas City, Kansas, USA.
Jeffrey M StatlandUniversity of Kansas Medical Center, Kansas City, Kansas, USA.
Talia StrahlerUniversity of Colorado, Aurora, Colorado, USA.
Robert WillUniversity of Colorado, Aurora, Colorado, USA.
Matthew WicklundUniversity of Colorado, Aurora, Colorado, USA.
Stacy DixonUniversity of Colorado, Aurora, Colorado, USA.
Renee AugsburgerUniversity of California, Irvine, California, USA.
Tahseen MozaffarUniversity of California, Irvine, California, USA.
Katie M LaubscherCenter for Disabilities and Development, University of Iowa Health Care Stead Family Children's Hospital, Iowa City, Iowa, USA.
Shelley R H MocklerCenter for Disabilities and Development, University of Iowa Health Care Stead Family Children's Hospital, Iowa City, Iowa, USA.
Katherine D MathewsCenter for Disabilities and Development, University of Iowa Health Care Stead Family Children's Hospital, Iowa City, Iowa, USA.
Nikia StinsonKennedy Krieger Institute, Baltimore, Maryland, USA.
Doris G LeungKennedy Krieger Institute, Baltimore, Maryland, USA.ORCID https://orcid.org/0000-0002-2558-7798
Molly M StarkGreg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Rebecca A HortonGreg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Peter B KangGreg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.ORCID https://orcid.org/0000-0002-4270-7325
Meredith K JamesThe John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Amanda ClauseWashington University School of Medicine, St. Louis, Missouri, USA.ORCID https://orcid.org/0000-0002-2078-7280
Conrad C WeihlWashington University School of Medicine, St. Louis, Missouri, USA.
Nicholas E JohnsonVirginia Commonwealth University, Richmond, Virginia, USA.
GRASP‐LGMD Consortium

Funding

Trial Readiness and Endpoint Assessment in LGMDR1 (TREATing-LGMDR1)U01NS124974 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI Nicholas Elwood Johnson · 2023 to 2026
$4.0M
Development and validation of clinical outcome assessments in LGMD2AR21TR003184 · NCATS · VIRGINIA COMMONWEALTH UNIVERSITY · PI JOHNSON, NICHOLAS ELWOOD, STATLAND, JEFFREY · 2020 to 2021
$452k
Coalition to Cure Calpain-3Muscular Dystrophy AssociationNational Institute of Health and Sciences GR000312600385728124National Institute of Health and Sciences K24National Institute of Health and Sciences R21TR003184NCATS NIH HHS R21 TR003184NINDS NIH HHS U01 NS124974
6 · The paper itself

Abstract

objectiveIdentifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.

methodsThrough the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Consortium, 42 subjects with LGMDR1 were enrolled in a 12-month natural history study across 11 international sites. Each subject completed a battery of clinical outcome assessments (COA), including the North Star Assessment for Limb Girdle-Type Dystrophies (NSAD), 10-m walk/run, and Performance of the Upper Limb (PUL), in addition to several patient-reported outcome measures (PROM).

resultsIn this baseline cross-sectional analysis, significant correlations were found between COAs and PROMs, with significant differences in the performance of assessments based on subjects' ambulatory status and genetic variant classification.

interpretationThe study has determined that the NSAD and other assessments are valid and reliable measures for quantifying the level of disease impairment in individuals with LGMDR1.

Indexed as

Clinical Trials as TopicMuscular Dystrophies, Limb-GirdleOutcome Assessment, Health CarePatient Reported Outcome MeasuresAdolescentAdultChildCross-Sectional StudiesFemaleHumansMaleMiddle AgedYoung Adultlimb girdle muscular dystrophynatural historyoutcome measures

Identifiers

PMID40237364
PMCPMC12172116

What OpenQuestion holds

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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.