Evidence map›Paper›PMID 39675022›Full record

Observational studyAnnals of clinical and translational neurology2025

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

Lindsay N Alfano, Meredith K James, Kristine Grosfjeld Petersen, Karen Rudolf, John Vissing, Renee Augsburger, Tahseen Mozaffar, Aileen Jones, Amanda Butler, Katie M Laubscher and 22 more

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

Observational study 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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
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

32 authors.

Lindsay N AlfanoCenter for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID https://orcid.org/0000-0002-2263-7569
Meredith K JamesThe John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne Hospitals NHS Trust and Newcastle University, Newcastle Upon Tyne, UK.
Kristine Grosfjeld PetersenDepartment of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Karen RudolfDepartment of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
John VissingDepartment of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID https://orcid.org/0000-0001-6144-8544
Renee AugsburgerDepartment of Neurology, University of California, Irvine, California, USA.
Tahseen MozaffarDepartment of Neurology, University of California, Irvine, California, USA.
Aileen JonesDepartment of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
Amanda ButlerDepartment of Neurology, Virginia Commonwealth University, Richmond, Virginia, 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 MathewsDepartment of Neurology, University of Iowa, Iowa City, Iowa, USA.
Megan A IammarinoCenter for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Natalie F ReashCenter for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Lindsay PietruszewskiCenter for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Linda P LowesCenter for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Talia StrahlerDepartment of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
Matthew WicklundDepartment of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
Stephanie HunnDepartment of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Conrad C WeihlDepartment of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Sandhya SasidharanDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Melissa CurrenceDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Jeffrey M StatlandDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Nikia StinsonCenter for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Megan HolzerCenter for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Doris G LeungCenter for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, Maryland, USA.ORCID https://orcid.org/0000-0002-2558-7798
Donovan J LottDepartment of Physical Therapy, University of Florida, Gainesville, Florida, USA.
Peter B KangDepartment of Pediatrics, University of Florida, Gainesville, Florida, USA.ORCID https://orcid.org/0000-0002-4270-7325
Scott HolstenDepartment of Neurology, Atrium Health, Charlotte, North Carolina, USA.
Urvi DesaiDepartment of Neurology, Atrium Health, Charlotte, North Carolina, USA.
Nicholas E JohnsonDepartment of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
GRASP‐LGMD Consortium

Funding

ML Bio Solutions
6 · The paper itself

Abstract

objectiveLimb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross-sectional validity and reliability of clinical outcome assessments in patients with FKRP-related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.

methodsEnrolled patients completed a battery of COA on two consecutive days, including the North Star Assessment for limb girdle-type dystrophies (NSAD), the 100-m timed test (100 m), and the Performance of Upper Limb 2.0 (PUL).

resultsA total of 101 patients with FKRP-related LGMDR9 completed COA evaluations. All functional COA were highly and significantly correlated even across constructs, except for the 9-hole peg test. Similarly, all tests demonstrated excellent test-retest reliability across 2-day visits. The NSAD and PUL demonstrate robust psychometrics with good targeting, ordered response thresholds, fit and stability, and limited dependency of items across the scales.

conclusionsThis study has determined the suitability of several functional COA, cross-sectionally, in LGMDR9 to inform future trial design and clinical care.

Indexed as

Muscular Dystrophies, Limb-GirdleOutcome Assessment, Health CarePentosyltransferasesAdolescentAdultAgedCross-Sectional StudiesFemaleHumansMaleMiddle AgedProspective StudiesReproducibility of ResultsYoung AdultFKRP protein, humanPentosyltransferases

Identifiers

PMID39675022
PMCPMC11822816

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.