Evidence map›Paper›PMID 32518148›Full record

ArticleNeurology2020

Novel approaches to quantify CNS involvement in children with Pompe disease.

Aditi Korlimarla, Gail A Spiridigliozzi, Kelly Crisp, Mrudu Herbert, Steven Chen, Michael Malinzak, Mihaela Stefanescu, Stephanie L Austin, Heidi Cope, Kanecia Zimmerman and 3 more

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

Article in Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04639336 (Cognitive and Neurological Pathologies in Pompe Disease), which is not on this map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
1.6field-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.

NCT04639336 recruitingnot on this map

Cognitive and Neurological Pathologies in Pompe Disease

TypeobservationalSponsorDuke UniversityRan2016 to 2029Enrolled45ConditionsPompe Disease
3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022
    Pooled it
  3. Article
  4. Article
  5. Article
  6. Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  7. Article
  8. Review
  9. Article
  10. Is the brain involved in patients with late-onset Pompe disease?Journal of inherited metabolic disease · 2022
    Article
  11. Article
  12. Article
  13. Behavioral, social and school functioning in children with Pompe disease.Molecular genetics and metabolism reports · 2020
    Article
  14. 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

13 authors at 2 institutions in 1 country.

Aditi KorlimarlaFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.ORCID 0000-0002-0680-9949
Gail A SpiridigliozziFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Kelly CrispFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Mrudu HerbertFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Steven ChenFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Michael MalinzakFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Mihaela StefanescuFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Stephanie L AustinFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Heidi CopeFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Kanecia ZimmermanFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Harrison JonesFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
James M ProvenzaleFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Priya S KishnaniFrom the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC. priya.kishnani@duke.edu.
University of Kentucky · USClinical Research Institute · US

Funding

Training & EducationU54NS065768 · NINDS · UNIVERSITY OF MINNESOTA · PI WHITLEY, CHESTER B. · 2009 to 2024
$17.7M
NINDS NIH HHS U54 NS065768
6 · The paper itself

Abstract

objectiveTo characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.

methodsThe study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Pompe disease (LOPD) (n = 2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach: the individual FS scores from 10 anatomical areas were summed to yield a total FS score (range absent [0] to severe [30]) for each child. The FS scores were compared to developmental assessments of cognition and language obtained during the same time period.

resultsMild to severe WM hyperintense foci were seen in 10/12 children with IPD (median age 10.6 years) with total FS scores ranging from 2 to 23. Periventricular, subcortical, and deep WM were involved. WM hyperintense foci were seen throughout the path of the corticospinal tracts in the brain in children with IPD. Two children with IPD had no WM hyperintense foci. Children with IPD had relative weaknesses in processing speed, fluid reasoning, visual perception, and receptive vocabulary. The 2 children with LOPD had no WM hyperintense foci, and high scores on most developmental assessments.

conclusionThis study systematically characterized WM hyperintense foci in children with IPD, which could serve as a benchmark for longitudinal follow-up of WM abnormalities in patients with Pompe disease and other known neurodegenerative disorders or leukodystrophies in children.

Indexed as

Magnetic Resonance ImagingNeuroimagingAdolescentAge of OnsetBrainBrain Diseases, Metabolic, InbornChildCognition DisordersCross-Sectional StudiesDevelopmental DisabilitiesEnzyme Replacement TherapyGlucan 1,4-alpha-GlucosidaseGlycogen Storage Disease Type IIHumansLanguage DisordersWhite MatterGlucan 1,4-alpha-Glucosidase

Identifiers

PMID32518148
PMCPMC7455359
OpenAlexW3033804260

What OpenQuestion holds

Textmetadata
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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.