Niemann-Pick disease, type C (NPC)

Publications & Science

Congress presentations and posters from Beren-sponsored research, along with links to external peer-reviewed publications on adrabetadex and NPC.

Congress Materials
Biomarkers
NPCCSS
Survival Analysis

Efficacy of Intrathecal Adrabetadex in Infantile-Onset Niemann-Pick Disease Type C is Supported by Survival, Clinical, and Biomarker Data — Poster

October 26, 2026

NORD Breakthrough Summit 2026
Congress Materials
Survival Analysis

A target trial emulation framework for externally controlled survival analyses ininfantile-onset Niemann-Pick disease type C — Poster

October 26, 2026

NORD Breakthrough Summit 2026
Congress Materials

Early evidence of an emerging NPC treatment paradigm: adrabetadex use alongside arimoclomol and/or levacetylleucine — Poster

October 14, 2026

Child Neurology Society Annual Meeting 2026
Congress Materials
NPCCSS

Outcomes in participants with infantile-onset Niemann-Pick disease type C receiving prompt and sustained treatment with adrabetadex — Poster

October 14, 2026

Child Neurology Society Annual Meeting 2026
Congress Materials
NPCCSS
Survival Analysis

Survival outcomes by baseline disease burden in participants with infantile-onset Niemann-Pick disease type C treated with adrabetadex — Poster

October 14, 2026

Child Neurology Society Annual Meeting 2026
Congress Materials

Case Report of Siblings With Infantile-Onset Niemann-Pick Type C (I-NPC) Initiating Adrabetadex at Different Ages and Intervals From Disease Onset — Poster

October 14, 2026

Child Neurology Society Annual Meeting 2026
Congress Materials
NPCCSS
Survival Analysis

Survival outcomes by baseline disease burden in participants with infantile-onset Niemann-Pick disease type C treated with adrabetadex — Poster

May 31, 2026

Ara Parseghian Medical Research Fund 2026
Congress Materials
NPCCSS

Outcomes in participants with infantile-onset Niemann-Pick disease type C receiving prompt and sustained treatment with adrabetadex — Poster

May 31, 2026

Ara Parseghian Medical Research Fund 2026
Congress Materials

Early evidence of an emerging NPC treatment paradigm: adrabetadex use alongside arimoclomol and/or N‑acetyl‑L‑leucine — Poster

May 31, 2026

Ara Parseghian Medical Research Fund 2026
Congress Materials
Preclinical

Adrabetadex alone or in combination with arimoclomol and levacetylleucine promotes oligodendrocyte proliferation, synaptic network growth, and myelination in an in vitro mouse model of Niemann-Pick disease type C — Poster

May 31, 2026

Ara Parseghian Medical Research Fund 2026
Congress Materials
Preclinical

Mechanism of action of adrabetadex for treatment of Niemann-Pick disease type C — Poster

May 31, 2026

Ara Parseghian Medical Research Fund 2026
Congress Materials
Biomarkers
NPCCSS
Survival Analysis

Efficacy of Intrathecal Adrabetadex in Infantile-Onset Niemann-Pick Disease Type C is Supported by Survival, Clinical, and Biomarker Data

May 17, 2026

Society for Inherited Metabolic Disorders 2026
Congress Materials
Biomarkers
NPCCSS
Survival Analysis

Survival, Clinical, and Biomarker Data Support the Efficacy of Intrathecal Adrabetadex in Niemann-Pick Disease Type C​ — Presentation

March 12, 2026

American College of Medical Genetics and Genomics 2026
Congress Materials
Biomarkers

Adrabetadex Treatment in Individuals With Niemann-Pick Disease Type C1 Re-establishes Cholesterol Trafficking, Resulting in Decreased Markers of Neuronal Damage and Cell Death — ePoster

February 6, 2026

WORLDSymposium 2026
Congress Materials
NPCCSS
Survival Analysis

Substantial Survival Benefit and Slowing of Disease Progression With Adrabetadex Treatment in Individuals With Infantile-onset Niemann-pick Disease Type C (NPC) — ePoster

February 6, 2026

WORLDSymposium 2026
Congress Materials
NPCCSS
Survival Analysis

Substantial Survival Benefit and Slowing of Disease Progression With Adrabetadex Treatment in Individuals With Infantile-onset Niemann-pick Disease Type C (NPC) — Poster

February 6, 2026

WORLDSymposium 2026
Congress Materials
Biomarkers

Adrabetadex Treatment in Individuals With Niemann-Pick Disease Type C1 Re-establishes Cholesterol Trafficking, Resulting in Decreased Markers of Neuronal Damage and Cell Death — Presentation

February 6, 2026

WORLDSymposium 2026
Congress Materials
Biomarkers

Adrabetadex Treatment in Individuals With Niemann-Pick Disease Type C1 Re-establishes Cholesterol Trafficking, Resulting in Decreased Markers of Neuronal Damage and Cell Death — Poster

February 6, 2026

WORLDSymposium 2026
Publications
Biomarkers

Utility of 24(S)-Hydroxycholesterol as a Proximal Biomarker to Monitor Long-Term Intrathecal Adrabetadex Therapy in Individuals With Niemann-Pick Disease, Type C1

December 1, 2025

Molecular Genetics and Metabolism
Congress Materials
Survival Analysis

Substantial Survival Benefit in Individuals with Infantile-onset Niemann-Pick Disease Type C Treated with Adrabetadex — Poster

October 10, 2025

Child Neurology Society 2025
Congress Materials
Biomarkers

Restoration of Cholesterol Trafficking Results in Decreased Markers of Neuronal Damage in Individuals with Niemann-Pick Disease Type C1 — Poster

October 10, 2025

Child Neurology Society 2025
Congress Materials
Survival Analysis

Substantial Survival Benefit in Individuals with Infantile-onset Niemann-Pick Disease Type C Treated with Adrabetadex — Poster

September 14, 2025

American Neurological Association 2025
Congress Materials
Biomarkers

Restoration of Cholesterol Trafficking Results in Decreased Markers of Neuronal Damage in Individuals with Niemann-Pick Disease Type C1 — Poster

September 14, 2025

American Neurological Association 2025
Publications
EAP
NPCCSS

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale

June 1, 2025

Journal of Child Neurology
Publications
Biomarkers

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions​

March 1, 2025

Journal of Inherited Metabolic Disease
Publications
EAP

Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C​

July 1, 2023

Pediatric Neurology
Publications
Biomarkers
EAP

Neurofilament Light Chain in Cerebrospinal Fluid as a Novel Biomarker in Evaluating Both Clinical Severity and Therapeutic Response in Niemann-Pick Disease Type C1

March 1, 2023

Genetics in Medicine
Publications
EAP
NPCCSS

Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial​

February 1, 2022

Pediatric Neurology
Publications
Biomarkers

Transcriptome of HPβCD-Treated Niemann-Pick Disease Type C1 Cells Highlights GPNMB as a Biomarker for Therapeutics

December 1, 2021

Human Molecular Genetics
Publications
Clinical Study

A Phase 1/2 Open Label Nonrandomized Clinical Trial of Intravenous 2-Hydroxypropyl-β-Cyclodextrin for Acute Liver Disease in Infants With Niemann-Pick C1

September 1, 2021

Molecular Genetics and Metabolism Reports
Publications
Administration

Anesthetic Management of Pediatric Patients With Niemann-Pick Disease Type C for Intrathecal 2-Hydroxypropyl-β-Cyclodextrin Injection

April 1, 2020

Pediatric Anesthesia
Publications
Clinical Study

Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1​

June 1, 2019

CNS Drugs
Publications
EAP

Long-Term Treatment of Niemann-Pick Type C1 Disease with Intrathecal 2-Hydroxypropyl-β-Cyclodextrin

March 1, 2018

Pediatric Neurology
Publications
Clinical Study

Intrathecal 2-Hydroxypropyl-β-Cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick Disease, Type C1: A Non-Randomised, Open-Label, Phase 1–2 Trial

October 1, 2017

Lancet
Publications
Preclinical

Characterization of Hydroxypropyl-Beta-Cyclodextrins Used in the Treatment of Niemann-Pick Disease Type C1

April 1, 2017

PLOS One

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