Evidence map›Paper›PMID 40356354›Full record

Observational studyJournal of neuromuscular diseases2025

A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy.

Megan A Iammarino, Natalie F Reash, Kiana Shannon, Maggie Dugan, Kelly Lehman, Alayne Meyers, Jerry R Mendell, Lindsay N Alfano, Linda P Lowes

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

Observational study in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Megan A IammarinoCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.ORCID 0000-0003-2800-3855
Natalie F ReashCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.ORCID 0000-0002-0573-9504
Kiana ShannonCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.ORCID 0009-0007-6132-5561
Maggie DuganCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.
Kelly LehmanCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.
Alayne MeyersCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.ORCID 0000-0003-3072-0212
Jerry R MendellCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.
Lindsay N AlfanoCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.ORCID 0000-0002-2263-7569
Linda P LowesCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus OH, USA.ORCID 0000-0003-4206-0557

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionLimb-girdle muscular dystrophy (LGMD) R4, betasarcoglycanopathy, is a progressive muscle disease that frequently presents in childhood and results in loss of ambulation around 20 years of age. With interventional trials on the horizon it is essential to document functional disease progression using standardized performance outcome assessments (PerfO).

methodsWe present a prospective longitudinal observational study of individuals recruited through both Nationwide Children's Hospital neuromuscular clinics and through outreach events held in an area with a high incidence of Founder variant (c.452C > G). PerfOs included the NorthStar Assessment for limb-girdle dystrophies (NSAD), Performance of Upper Limb (PUL), timed function tests, and spirometry, as appropriate.

resultsForty-six individuals enrolled (aged 3-55 years) with 22 (55%) ambulant. Most PerfOs quantified change over time. We found heterogeneity of functional abilities at all ages. In our cohort, children's performance improved until around age 7, followed by a plateau until around 10-12 years. The ability to rise from the floor was the first milestone lost and was unable to be completed by anyone who took longer than 7.7 s on the 10-meter. Further, performance on select PerfOs were related to skills of functional independence, informing clinical care and data driven trial design.

conclusionThere is a great deal of functional heterogeneity. The selected PerfOs measured motor function and disease progression in individuals with LGMDR4, for the benefit of both data driven clinical management and clinical trial design.

Indexed as

Disease ProgressionMuscular Dystrophies, Limb-GirdleSarcoglycanopathiesAdolescentAdultChildChild, PreschoolFemaleHumansLongitudinal StudiesMaleMiddle AgedProspective StudiesYoung Adultbetasarcoglycanopathyclinical outcomesclinical trial readinessLGMD2ELGMDR4limb-girdle muscular dystrophymotor function.natural history

Identifiers

PMID40356354
PMCPMC13142873

What OpenQuestion holds

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Registered trials

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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.