Evidence map›Paper›PMID 39688135›Full record

ArticleAmerican journal of medical genetics. Part A2025

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1.

Cameron J Padilla, Derek M Alexander, Desiree A Labor, Orsolya K Albert, Kendall P Robbins, Elizabeth Berry-Kravis, Forbes D Porter

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 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

7 authors.

Cameron J PadillaDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.
Derek M AlexanderDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.
Desiree A LaborDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.
Orsolya K AlbertDepartment of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.
Kendall P RobbinsDepartment of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.
Elizabeth Berry-KravisDepartment of Pediatrics, Neurological Sciences and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois, USA.
Forbes D PorterDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0001-9397-0046

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
Ara Parseghian Medical Research FoundationEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentIntramural NIH HHS ZIA HD008988Intramural NIH HHS ZIA HD008989Support of Accelerated Research for Niemann-Pick Type C
6 · The paper itself

Abstract

Niemann-Pick disease, type C1 (NPC1) is an ultra rare, autosomal recessive disorder characterized by impaired intracellular cholesterol trafficking. This study assessed neuron-specific enolase (NSE) as a biomarker for disease status and treatment response in individuals with NPC1. We also evaluated the concordance between serum and cerebrospinal fluid (CSF) NSE measurements. A total of 34 individuals with NPC1 were included in this analysis. Overall, 10 participants were used to compare concurrent samples of CSF and serum NSE. NSE levels were correlated with indexes of disease severity (Annual Severity Increment Score [ASIS] and age of neurological onset) and disease burden (NPC Neurological Severity Score [NSS]). NSE was elevated in CSF, but paired CSF/serum samples were not correlated (r

Indexed as

Niemann-Pick Disease, Type CPhosphopyruvate HydrataseAdolescentAdultBiomarkersChildChild, PreschoolFemaleHumansIntracellular Signaling Peptides and ProteinsMaleMiddle AgedSeverity of Illness IndexYoung AdultBiomarkersIntracellular Signaling Peptides and ProteinsPhosphopyruvate Hydratasebiomarkerlysosomal diseaseneurodegenerative diseaseneuron‐specific enolaseNiemann‐pick diseaseNPC1type C

Identifiers

PMID39688135
PMCPMC11970998

What OpenQuestion holds

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Registered trials

None linked

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.