ArticleAnnals of clinical and translational neurology2019
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT05989620 (Long-Term Development of Muscular Dystrophy Outcome Assessments), which is not on this map. Cited by 21 papers.
What it found
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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.
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.
Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
Who cites it
21 citing papers in PubMed.
- Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy.BMC neurology · 2020Trial
- Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.Annals of clinical and translational neurology · 2026Observational
- Elbow Flexors Muscle Fat Fraction Is a Sensitive and Relevant Outcome Measure in Nonambulant Patients With DMD.NMR in biomedicine · 2026Article
- Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?Journal of neuromuscular diseases · 2026Review
- Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.Neurology. Genetics · 2026Article
- Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.Neurology. Clinical practice · 2025Review
- Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.Annals of clinical and translational neurology · 2025Article
- Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.Orphanet journal of rare diseases · 2025Article
- The utility of muscle magnetic resonance imaging in idiopathic inflammatory myopathies: a scoping review.Frontiers in immunology · 2025Article
- Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9.PloS one · 2025Article
- Five-year follow-up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome.Journal of cachexia, sarcopenia and muscle · 2023Article
- Histopathological correlations and fat replacement imaging patterns in recessive limb-girdle muscular dystrophy type 12.Journal of cachexia, sarcopenia and muscle · 2023Article
- Baseline fat fraction is a strong predictor of disease progression in Becker muscular dystrophy.NMR in biomedicine · 2022Article
- Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.Journal of cachexia, sarcopenia and muscle · 2022Article
- Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases.Journal of clinical medicine · 2021Article
- Selection Approach to Identify the Optimal Biomarker Using Quantitative Muscle MRI and Functional Assessments in Becker Muscular Dystrophy.Neurology · 2021Article
- Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases.European radiology · 2021Article
- Use of EP3533-Enhanced Magnetic Resonance Imaging as a Measure of Disease Progression in Skeletal Muscle ofFrontiers in neurology · 2021Article
- Motor outcome measures in patients withNeurology · 2020Article
- Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.Journal of cachexia, sarcopenia and muscle · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors.
Funding
Abstract
objectiveLimb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort across 6 years.
methodsTwenty-three participants with LGMD R9, previously assessed over a 1-year period, were re-enrolled at 6 years. Standardized functional assessments were performed including: myometry, timed tests, and spirometry testing. Quantitative MRI was used to measure fat fraction in lower limb skeletal muscle groups.
resultsAt 6 years, all 14 muscle groups assessed demonstrated significant increases in fat fraction, compared to eight groups in the 1-year follow-up study. In direct contrast to the 1-year follow-up, the 6-min walk test, 10-m walk or run, timed up and go, stair ascend, stair descend and chair rise demonstrated significant decline. Among the functional tests, only FVC significantly declined over both the 1- and 6-year studies.
interpretationThese results further support fat fraction measurements as a primary outcome measure alongside functional assessments. The most appropriate individual muscles are the vastus lateralis, gracilis, sartorius, and gastrocnemii. Using composite groups of lower leg muscles, thigh muscles, or triceps surae, yielded high standardized response means (SRMs). Over 6 years, quantitative fat fraction assessment demonstrated higher SRM values than seen in functional tests suggesting greater responsiveness to disease progression.
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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 OpenQuestion graph.