Evidence map›Paper›PMID 25307854›Full record

ArticleNeuromuscular disorders : NMD2015

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Katherine G Meilleur, Minal S Jain, Linda S Hynan, Ching-Yi Shieh, Eunice Kim, Melissa Waite, Michelle McGuire, Courtney Fiorini, Allan M Glanzman, Marion Main and 23 more

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neuromuscular disorders : NMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04299321 (LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-Congenital Muscular Dystrophy), which is not on this map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 17% of its field
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.

NCT04299321 completednot on this mapstarted 2020, after this paper: background citation

LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-Congenital Muscular Dystrophy

TypeobservationalSponsorProthelia, Inc.Ran2020 to 2021Enrolled75ConditionsMerosin Deficient Congenital Muscular Dystrophy
3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.

  1. Pooled it
  2. Evaluation of respiratory status in patients with myopathy.Journal of education and health promotion · 2026
    Article
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  5. The recurrent deep intronic pseudoexon-inducing variantmedRxiv : the preprint server for health sciences · 2024
    Article
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  7. Article
  8. LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.Annals of clinical and translational neurology · 2023
    Observational
  9. Article
  10. Observational
  11. Article
  12. Article
  13. LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.Annals of clinical and translational neurology · 2020
    Article
  14. Review
  15. Article
  16. Article
  17. Dominant collagen XII mutations cause a distal myopathy.Annals of clinical and translational neurology · 2019
    Article
  18. Treating pediatric neuromuscular disorders: The future is now.American journal of medical genetics. Part A · 2018
    Review
  19. Article
  20. 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

33 authors at 13 institutions in 3 countries.

Katherine G MeilleurNational Institute of Nursing Research, NIH, Bethesda, MD, USA. Electronic address: meilleurk@mail.nih.gov.
Minal S JainMark O. Hatfield Clinical Research Center, NIH, Bethesda, MD, USA.
Linda S HynanDepartments of Clinical Sciences (Biostatistics) and Psychiatry, University of Texas Southwestern, Dallas, TX, USA.
Ching-Yi ShiehNational Institutes of Health, Bethesda, MD, USA.
Eunice KimCureCMD, Los Angeles, CA, USA.
Melissa WaiteMark O. Hatfield Clinical Research Center, NIH, Bethesda, MD, USA.
Michelle McGuirePediatric Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Courtney FioriniThe Kennedy Krieger Institute and the Departments of Neurology and Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Allan M GlanzmanChildren's Hospital of Philadelphia, Philadelphia, PA, USA.
Marion MainDubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
Kristy RoseInstitute for Neuroscience and Muscle Research at The Children's Hospital at Westmead, Sydney, Australia.
Tina DuongChildren's National Medical Center, Washington, DC, USA.
Roxanna BendixenUniversity of Pittsburgh, Pittsburgh, PA, USA.
Melody M LintonNational Institute of Nursing Research, NIH, Bethesda, MD, USA.
Irene C ArvesonNational Institute of Nursing Research, NIH, Bethesda, MD, USA.
Carmel NicholsMark O. Hatfield Clinical Research Center, NIH, Bethesda, MD, USA.
Kelly YangNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Kenneth H FischbeckNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Kathryn R WagnerThe Kennedy Krieger Institute and the Departments of Neurology and Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Kathryn NorthInstitute for Neuroscience and Muscle Research at The Children's Hospital at Westmead, Sydney, Australia.
Ami MankodiNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Christopher GrunseichNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Elizabeth J HartnettNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Michaele SmithMark O. Hatfield Clinical Research Center, NIH, Bethesda, MD, USA.
Sandra DonkervoortNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Alice SchindlerNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Angela KokkinisNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Meganne LeachChildren's National Medical Center, Washington, DC, USA; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
A Reghan FoleyDubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
James CollinsPediatric Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Francesco MuntoniDubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
Anne RutkowskiCureCMD, Los Angeles, CA, USA; Kaiser SCPMG, Los Angeles, CA, USA.
Carsten G BönnemannNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address: carsten.bonnemann@nih.gov.
National Institute of Neurological Disorders and Stroke · USNational Institute of Nursing Research · USUniversity College London · GBChildren's Hospital at Westmead · AUChildren's National · USCincinnati Children's Hospital Medical Center · USJohns Hopkins University · USChildren's Hospital of Philadelphia · USCure CMD · USKaiser Foundation Hospital · USNational Institutes of Health · USThe University of Texas Southwestern Medical Center · USUniversity of Pittsburgh · US

Funding

Hereditary Muscle Disease UnitZIANS003131 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI MANKODI, AMI · 2012 to 2023
$11.7M
Studies Of Hereditary Neurological Disease: Clinical TrialsZIANS003037 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI FISCHBECK, KENNETH · 2009 to 2023
$9.6M
Research in Congenital Muscle DiseaseZIANR000026 · NINR · NATIONAL INSTITUTE OF NURSING RESEARCH · PI MEILLEUR, KATHERINE · 2013 to 2019
$4.5M
Intramural NIH HHS Z99 NR999999Intramural NIH HHS ZIA NR000026Intramural NIH HHS ZIA NS003037
6 · The paper itself

Abstract

Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD. In the first year, outcome measures tested included: Motor Function Measure 32 (MFM32), forced vital capacity (FVC) percent predicted sitting, myometry, goniometry, 10-meter walk, Egen Klassification 2, and PedsQL(TM) Generic and Neuromuscular Cores. In the second year, we added the North Star Ambulatory Assessment (NSAA), Hammersmith Functional Motor Scale (HFMS), timed functional tests, Measure of Activity Limitations (ACTIVLIM), Quality of Upper Extremity Skills Test (QUEST), and Patient-Reported Outcomes Measurement Information System (PROMIS) fatigue subscale. The MFM32 showed strong inter-rater (0.92) and internal consistency (0.96) reliabilities. Concurrent validity for the MFM32 was supported by large correlations (range 0.623-0.936) with the following: FVC, NSAA, HFMS, timed functional tests, ACTIVLIM, and QUEST. Significant correlations of the MFM32 were also found with select myometry measurements, mainly of the proximal extremities and domains of the PedsQL(TM) scales focusing on physical health and neuromuscular disease. Goniometry measurements were less reliable. The Motor Function Measure is reliable and valid in the two specific subtypes of CMD evaluated, COL6-RD and LAMA2-RD. The NSAA is useful as a complementary outcome measure in ambulatory individuals. Preliminary concurrent validity of several other clinical outcome measures was also demonstrated for these subtypes.

Indexed as

Exercise TestSeverity of Illness IndexAdolescentAdultChildChild, PreschoolCollagen Type VIFemaleHumansLamininMaleMuscular DystrophiesMutationPilot ProjectsQuality of LifeReproducibility of ResultsCollagen Type VILamininlaminin alpha 2Clinical outcome measuresCollagen VI related muscular dystrophyLaminin alpha 2 related dystrophyMotor function scalesNeuromuscular disease

Identifiers

PMID25307854
PMCPMC5125840
OpenAlexW1987333294

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.