Evidence map›Paper›PMID 40821948›Full record

ArticleGenetics in medicine open2025

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1.

Niamh X Cawley, Ruyu Zhou, Avani Mylvara, Cameron J Padilla, Derek Alexander, Nicole Farhat, Carolina Alvarez, Antony Cougnoux, Elizabeth Berry-Kravis, Stephanie M Cologna and 2 more

Abstract read
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In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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

1 citing paper in PubMed.

  1. 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

12 authors.

Niamh X CawleySection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Ruyu ZhouApplied and Computational Mathematics and Statistics, University of Notre Dame, South Bend, IN.
Avani MylvaraSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Cameron J PadillaSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Derek AlexanderSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Nicole FarhatSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Carolina AlvarezSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Antony CougnouxSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Elizabeth Berry-KravisDepartments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL.
Stephanie M ColognaDepartment of Chemistry and Laboratory of Integrative Neuroscience, University of Illinois Chicago, Chicago, IL.
Fang LiuApplied and Computational Mathematics and Statistics, University of Notre Dame, South Bend, IN.
Forbes D PorterSection on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disease caused by pathological variants in Methods: We measured NfL levels in serum samples from 118 well-characterized individuals with NPC1 and analyzed them with respect to clinical measures and treatment status. Results: The results show a 6.1-fold increase in serum NfL in individuals with NPC1 compared with age-appropriate controls. Moreover, serum NfL levels showed a significant positive correlation with age of neurological symptom onset and the annual severity increment score. Serum NfL levels were also positively correlated with the 17- and 5-domain NPC Neurological Severity Scores. Longitudinal analyses reveal a 26% reduction in serum NfL levels in individuals on miglustat, a therapeutic drug used off-label for the treatment of NPC1 in the United States of America. Effectiveness of intrathecal hydroxypropyl-β-cyclodextrin treatment may be more beneficial in younger individuals. To help inform clinical trial design, our modeling predicts that a measurable reduction of serum NfL levels might be observed after 8 months of treatment with a potential drug exhibiting 10% to 20% efficacy. Conclusion: Our data suggest that NfL may be a useful serum biomarker for NPC1.

Indexed as

Hydroxypropyl-β-cyclodextrinMiglustatNeurofilament lightNiemann-Pick diseaseSerum biomarker

Identifiers

PMID40821948
PMCPMC12351337

What Socratic holds

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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 Socratic graph.