Evidence map›Paper›PMID 41260183›Full record

ArticleMolecular genetics and metabolism2025

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.

Forbes D Porter, Derek M Alexander, Orsolya K Albert, Kendall P Robbins, Desiree A Labor, Aiden J Borruso, Nicole Y Farhat, Xuntian Jiang, Elizabeth Berry-Kravis

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Forbes D PorterDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America. Electronic address: fdporter@mail.nih.gov.
Derek M AlexanderDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America.
Orsolya K AlbertDepartments of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America.
Kendall P RobbinsDepartments of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America.
Desiree A LaborDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America.
Aiden J BorrusoDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America.
Nicole Y FarhatDivision of Clinical Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, DHHS, Bethesda, MD, United States of America.
Xuntian JiangDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, United States of America.
Elizabeth Berry-KravisDepartments of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America; Departments of Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL, United States of America.

Funding

WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Clay F. Semenkovich · 2013 to 2026
$27.1M
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 HD008989NIDDK NIH HHS P30 DK020579
6 · The paper itself

Abstract

Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease characterized by endolysosomal storage of unesterified cholesterol. Individuals with NPC1 manifest progressive neurodegeneration. Identification and characterization of proximal biomarkers is essential for developing therapeutic interventions. Increased levels of 24(S)-hydroxycholesterol (24(S)OHC) after intrathecal administration of adrabetadex reflect correction of the biochemical defect in neurons. In this study, we show that 24(S)OHC remains a robust proximal biomarker in individuals treated with IT adrabetadex for over four years.

Indexed as

HydroxycholesterolsNiemann-Pick Disease, Type CAdolescentAdultBiomarkersChildFemaleHumansInjections, SpinalMaleYoung Adult24-hydroxycholesterolBiomarkersHydroxycholesterols24(S)-hydroxycholesterol2-hydroxypropyl-B-cyclodextrinAdrabetadexNiemann-Pick disease, type C1NPC1Proximal Biomarker

Identifiers

PMID41260183
PMCPMC12638010

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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.