Evidence map›Paper›PMID 41486779›Full record

Observational studyAnnals of clinical and translational neurology2026

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.

Chandra L Miller, Lauren N Coffey, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, M Bridget Zimmerman, Katherine D Mathews

Registry-linked trialAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00313677 (Clinical Trial Readiness for the Dystroglycanopathies), which is not on this map. Not yet cited in PubMed.

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

NCT00313677 recruitingnot on this map

Clinical Trial Readiness for the Dystroglycanopathies

TypeobservationalSponsorKatherine MathewsRan2006 to 2030Enrolled190ConditionsMuscular Dystrophy
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Chandra L MillerDepartment of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.ORCID 0000-0002-5550-6936
Lauren N CoffeyUniversity of Iowa Carver College of Medicine, 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.
Katie M LaubscherCenter for Disabilities and Development, University of Iowa Health Care Stead Family Children's Hospital, Iowa City, Iowa, USA.
Carrie M StephanDepartment of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
M Bridget ZimmermanDepartment of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.
Katherine D MathewsDepartment of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

Funding

Therapeutic Potential of ESC-Derived Myogenic PrecursorsU54NS053672 · NINDS · UNIVERSITY OF IOWA · PI MOORE, STEVEN A · 2005 to 2019
$22.0M
NIH HHS NIH U54 NS053672NINDS NIH HHS U54 NS053672
6 · The paper itself

Abstract

backgroundLimb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9.

methodsParticipants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 years old were included (n = 97). LOA was defined as self-reported full-time wheelchair use, weakness preventing completion of the 10-m walk-run test (10MWT) or 10MWT time > 30 s. Interval-censored time-to-event analysis was used to determine median age at LOA. Receiver operating characteristic curves were used to examine the ability of 10MWT and 4-stair climb (4SC) times to predict LOA.

resultsOf 97 participants, 55 (57%) were homozygous for the c.826C>A founder variant. Thirty-one participants lost ambulation; 15 (49%) were homozygous for c.826C>A. Earliest age at LOA was 9 years (non-homozygous for c.826C>A). Median age at LOA for the cohort was 46.0 years. Performances on 10MWT and 4SC were highly predictive of LOA within 3 years, with areas under the ROC curve of 0.89 (10MWT) and 0.87 (4SC) when genotype was included in analysis. Optimal cutoffs for predicting LOA within 3 years differed by genotype and had acceptable sensitivity and specificity. DISCUSSION: LOA among those with LGMDR9 is strongly predicted by performance on 10MWT and 4SC. These results demonstrate the real-world significance of standardized motor function tests used in LGMDR9 clinical trials and aid in anticipatory guidance.

Indexed as

Mobility LimitationMuscular Dystrophies, Limb-GirdleWalkingAdolescentAdultChildFemaleHumansMaleMiddle AgedPentosyltransferasesYoung AdultFKRP protein, humanPentosyltransferasesdystroglycanopathyFKRPlimb‐girdle muscular dystrophyloss of ambulation

Identifiers

PMID41486779
PMCPMC13251427

What Socratic holds

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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 Socratic graph.