Evidence map›Paper›PMID 41483684›Full record

ArticleEBioMedicine2026

Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.

Neha Regmi, Bijan Abar, Jeong-A Lim, Daniel Kenney-Jung, Michael Malinzak, Kristen A Hagarty-Waite, Karra A Jones, Seung-Hye Jung, Ashlee R Stiles, Rebecca L Koch and 1 more

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Article in EBioMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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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

11 authors.

Neha RegmiDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Bijan AbarDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Jeong-A LimDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Daniel Kenney-JungDepartment of Medical Genetics, Johns Hopkins University, Baltimore, MD, United States.
Michael MalinzakDivision of Neuroradiology, Department of Radiology, Duke University Medical Center, DUMC Box 3808, Durham, NC, United States.
Kristen A Hagarty-WaiteDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Karra A JonesDivision of Neuropathology, Department of Pathology, Duke University Medical Center, Durham, NC, United States.
Seung-Hye JungDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Ashlee R StilesDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, United States.
Rebecca L KochDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States. Electronic address: priya.kishnani@duke.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPompe disease (PD), caused by acid α-glucosidase (GAA) deficiency, leads to glycogen accumulation in various tissues including the central nervous system. While enzyme replacement therapy (ERT) is lifesaving, it does not cross the blood-brain barrier. CNS manifestations including sensorineural hearing loss, dysarthria, and cognitive delay-persist despite ERT. Hence, CNS-specific biomarkers are needed to identify at-risk patients and guide monitoring and treatment. This clinical, retrospective study evaluated the utility of plasma glial fibrillary acidic protein (GFAP) as a potential biomarker of CNS involvement in infantile-onset Pompe disease (IOPD) compared to plasma neurofilament light chain (NfL).

methodsPlasma GFAP and NfL levels were measured longitudinally in 37 patients with PD (180 samples, ages 0.1-21 years) and 54 age- and sex-matched controls. Patients were grouped as (1) IOPD with severe neurologic involvement (n = 7), (2) IOPD with attenuated neurologic involvement (n = 13), and (3) late-onset PD without neurologic involvement (LOPD; n = 17). Neurologic status was determined via clinical examination and/or brain MRI white matter grading via Modified Fazekas Scores (MFS).

findingsGFAP levels were highest in IOPD patients with severe neurologic involvement. Patients with IOPD in the attenuated neurologic involvement group had, on average, lower plasma GFAP concentrations than those with severe neurologic involvement but greater GFAP levels than patients with LOPD, which resembled controls. GFAP outperformed NfL in differentiating patients with IOPD from controls (AUC = 0.886 vs 0.705) and identifying severe from attenuated neurologic involvement group (AUC = 0.801 vs 0.745). NfL showed high variability between controls and PD subgroups.

interpretationPlasma GFAP levels reliably reflect CNS disease burden in IOPD and outperform NfL in diagnostic performance. GFAP may be a useful biomarker for detecting and monitoring CNS involvement in PD.

fundingFunding was provided in part by Sanofi (Cambridge, Massachusetts, USA). Philanthropic support was provided in part by Judy and Monty Frost, Abigail and JB Spaulding, AG Cox Charity Trust and Macie's Mission.

Indexed as

BiomarkersCentral Nervous SystemGlial Fibrillary Acidic ProteinGlycogen Storage Disease Type IIAdolescentAge of OnsetChildChild, PreschoolFemaleHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleNeurofilament ProteinsRetrospective StudiesBiomarkersGFAP protein, humanGlial Fibrillary Acidic Proteinneurofilament protein LNeurofilament ProteinsBiomarkersBrain MRICentral nervous systemGlial fibrillary acidic proteinInfantile-onset Pompe diseaseModified Fazekas scoreNeurofilament light chainWhite matter hyperintensities

Identifiers

PMID41483684
PMCPMC12805081

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Registered trials

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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.