Evidence map›Paper›PMID 30097247›Full record

ArticleNeuromuscular disorders : NMD2018

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Jake Plewa, Abhilasha Surampalli, Marie Wencel, Merit Milad, Sandra Donkervoort, Vincent J Caiozzo, Namita Goyal, Tahseen Mozaffar, Virginia Kimonis

Registry-linked trialAbstract read

PubMed Full text at PMC Publisher

In one paragraph

Article in Neuromuscular disorders : NMD, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01353430 (Characterization of Familial Myopathy and Paget Disease of Bone), which is not on this map. Cited by 6 papers.

0numbers the graph read from it

0cells of the map it votes in

6citing papers in PubMed

0.4field-weighted citation impact, top 40% 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.

NCT01353430 recruitingnot on this map

Characterization of Familial Myopathy and Paget Disease of Bone

TypeobservationalSponsorUniversity of California, IrvineRan2007 to 2030Enrolled50ConditionsInclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 9 citations in OpenAlex.

Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.Annals of clinical and translational neurology · 2023
Review
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.Journal of neurology, neurosurgery, and psychiatry · 2022
Article
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.Orphanet journal of rare diseases · 2022
Review
Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.Cells · 2022
Article
Phenotypic diversity in an international Cure VCP Disease registry.Orphanet journal of rare diseases · 2020
Article
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.Frontiers in neuroscience · 2020
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 at 3 institutions in 1 country.

Jake PlewaDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States.

Abhilasha SurampalliDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States.

Marie WencelDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States.

Merit MiladDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States.

Sandra DonkervoortDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.

Vincent J CaiozzoDepartment of Orthopedics and Physiology & Biophysics, University of California, Irvine, CA, United States.

Namita GoyalALS and Neuromuscular Center, Department of Neurology, University of California, Irvine, CA, United States.

Tahseen MozaffarALS and Neuromuscular Center, Department of Neurology, University of California, Irvine, CA, United States.

Virginia KimonisDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States. Electronic address: vkimonis@uci.edu.

University of California, Irvine Medical Center · USUniversity of California, Irvine · USNational Institutes of Health · US

Funding

University of California Health Participation in the National COVID Cohort Collaborative (N3C)UL1TR001414 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI COOPER, DAN M, VILAIN, ERIC J. · 2015 to 2023

$35.1M

Genetic basis of myopathy with Paget disease of boneR01AR050236 · NIAMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI KIMONIS, VIRGINIA EUNICE · 2004 to 2008

$1.3M

Translational Studies in VCP Inclusion Body Myopathy with Paget Disease of BoneR56AR050236 · NIAMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI KIMONIS, VIRGINIA EUNICE · 2009 to 2009

$437k

NCATS NIH HHS UL1 TR001414NIAMS NIH HHS R01 AR050236NIAMS NIH HHS R56 AR050236

6 · The paper itself

Abstract

Inclusion body myopathy (IBM) associated with Paget disease of the bone and frontotemporal dementia or IBMPFD is an autosomal dominant degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. We aim to establish a detailed clinical phenotype of VCP disease amongst 35 (28 affected individuals, 7 presymptomatic gene carriers) individuals versus 14 unaffected first-degree relatives in 14 families to establish useful biomarkers for IBMPFD and identify the most meaningful tests for monitoring disease progression in future clinical trials. Comprehensive studies included the Inclusion Body Myositis Functional Rating Scale (IBMFRS) and fatigue severity scale questionairres, strength measurements using the Manual Muscle Test with Medical Research Council (MRC) scales, hand-held dynamometry using the microFET and Biodex dynamometers, 6 minute walk test (6MWT), and pulmonary function studies. Strong correlation was observed between the IBMFRS and measurements of muscle strength with dynamometry and the other functional tests, indicating that it may be utilized in long-term follow-up assessments due to its relative simplicity. This cross-section study represents the most comprehensive evaluation of individuals with VCP disease to date and provides a useful guide for evaluating and possible monitoring of muscle weakness and pulmonary function progression in this unique cohort of individuals.

Indexed as

AdultCross-Sectional StudiesFemaleFrontotemporal DementiaHumansMaleMiddle AgedMuscular Dystrophies, Limb-GirdleMutationMyositis, Inclusion BodyOsteitis DeformansSeverity of Illness IndexValosin Containing ProteinValosin Containing ProteinDynamometryIBMFRSIBMPFDInclusion Body MyopathyPaget diseaseVCP

Identifiers

PMID30097247

DOI10.1016/j.nmd.2018.06.007

PMCPMC6490182

OpenAlexW2810942315

What OpenQuestion holds

Textmetadata

LicenceTDM

Read underepoch 390

Registered trials

NCT01353430ClinicalTrials.gov

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.