Evidence map›Paper›PMID 42052237›Full record

ArticleResearch square2026

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Khushboo Singhal, Matthew T Menold, Niamh X Cawley, Kiersten Campbell, Nicole Y Farhat, Derek Alexander, Ryan K Dale, Forbes D Porter

Registry-linked trialAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00344331 (Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C), which is not on this map. Not yet cited in PubMed.

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0citing 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.

NCT00344331 recruitingnot on this map

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

TypeobservationalSponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Ran2006Enrolled900ConditionsNiemann-Pick Disease, Type C
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Khushboo SinghalSection on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Matthew T MenoldBioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Niamh X CawleySection on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Kiersten CampbellBioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Nicole Y FarhatSection on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Derek AlexanderSection on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Ryan K DaleBioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Forbes D PorterSection on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Funding

Basic and Translational Studies of Inborn Errors of MetabolismZIAHD008988 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2020 to 2025
$12.7M
Clinical Investigations of Inborn Errors of MetabolismZIAHD008989 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2020 to 2025
$5.1M
Intramural NIH HHS ZIA HD008988Intramural NIH HHS ZIA HD008989
6 · The paper itself

Abstract

Background: Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in Methods: Proximal Extension Assays (PEA) were used to determine relative protein expression levels from 68 serum samples from NPC1 individuals and 20 age-appropriate control serum samples. Statistical models identified NPC1 disease-specific effects after adjusting for covariates. Selected proteins were orthogonally validated by ELISA and correlated with assessments of both disease severity (Age of Neurological Onset (ANO) and Annual Severity Increment Score (ASIS)) and disease burden (NPC Neurological Severity Score (NSS). Results: Quantifiable data was obtained on 2888 proteins, revealing 186 increased (adjusted log Conclusions: The statistical analysis pipeline developed in this study is flexible and scalable and supports application to high-dimensional proteomic datasets. This study identified and validated serum proteins with altered expression in individuals with NPC1, responded to miglustat therapy, and correlated with disease severity or burden. These proteins may have clinical utility as biomarkers and provide insights into cellular mechanisms contributing to NPC1 disease pathology. Trial Registrations: NCT00344331 (Registration on 2006-06-23).

Indexed as

NeurodegenerationNiemann-Pick diseaseNPC1Proximal Extension AssaySerum Protein Biomarkerstype C1

Identifiers

PMID42052237
PMCPMC13119301

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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.