Evidence map›Paper›PMID 40525490›Full record

ArticleJournal of child neurology2026

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

Cristan Farmer, Monica Lewis, Nicole Farhat, Kendall P Robbins, Lisa Joseph, Orsolya K Albert, Simona Bianconi, Anne Hoffmann, Ivy Giserman-Kiss, Derek M Alexander and 3 more

3 registry-linked trialsAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of child neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
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
NCT01747135 phase1completednot on this map

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease

TypeinterventionalSponsorVtesse, LLC, a Mallinckrodt Pharmaceuticals CompanyRan2013 to 2017Enrolled14ConditionsNiemann-Pick Disease, Type C1ArmsVTS-270
NCT02534844 phase2 / phase3completednot on this map

A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease

TypeinterventionalSponsorMandos LLCRan2015 to 2018Enrolled56ConditionsNiemann-Pick Disease, Type CArmsParts A/B: Adrabetadex, Parts A/B: Sham Control
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

13 authors.

Cristan FarmerNational Institute of Mental Health, Bethesda, MD, USA.ORCID 0000-0001-6878-5199
Monica LewisRush University Medical Center, Chicago, IL, USA.
Nicole FarhatEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Kendall P RobbinsRush University Medical Center, Chicago, IL, USA.ORCID 0009-0000-8933-408X
Lisa JosephNational Institute of Mental Health, Bethesda, MD, USA.
Orsolya K AlbertRush University Medical Center, Chicago, IL, USA.
Simona BianconiEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Anne HoffmannRush University Medical Center, Chicago, IL, USA.
Ivy Giserman-KissNational Institute of Mental Health, Bethesda, MD, USA.
Derek M AlexanderEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.ORCID 0009-0009-6578-2537
Audrey ThurmNational Institute of Mental Health, Bethesda, MD, USA.
Forbes D PorterEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Elizabeth Berry KravisRush University Medical Center, Chicago, IL, USA.ORCID 0000-0001-7099-1522

Funding

Neurodevelopmental and Behavioral Phenotyping ZICMH002961 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI THURM, AUDREY · 2017 to 2025
$12.6M
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 HD008989Intramural NIH HHS ZIC MH002961OID CDC HHS E11 CH000001
6 · The paper itself

Abstract

The 5-Domain Niemann Pick Type C Clinical Severity Scale (5DNPCCSS) is used in clinical practice and trials. Although psychometric data support the clinical meaningfulness of the concepts and the scale's interrater reliability, more information is needed to support its construct validity. Here, we evaluated the convergent validity of the Cognition, Speech, and Fine Motor domains. Data from 121 individuals with Niemann-Pick disease type C were drawn from several studies conducted at 2 US sites. Direct standardized assessments included the Nine-Hole pegboard or Purdue pegboard, a portion of the Clinical Evaluation of Language Fundamentals, and the age-appropriate Wechsler IQ test or the Mullen Scales of Early Learning. The 5DNPCCSS domains were significantly related in the expected directions to their respective direct assessments, supporting their construct validity. In combination with previous evidence presented for the Ambulation and Swallow domains, these results support the fitness of purpose of the (5DNPCCSS for clinical studies in Niemann-Pick disease type C. ClinicalTrials.gov: NCT00344331, NCT01747135, NCT02534844.

Indexed as

CognitionMotor SkillsNiemann-Pick Disease, Type CSeverity of Illness IndexSpeechAdolescentAdultChildChild, PreschoolFemaleHumansMaleNeuropsychological TestsPsychometricsReproducibility of ResultsYoung Adultclinical outcome assessmentNiemann-Pick type CNPCCSSvalidity

Identifiers

PMID40525490
PMCPMC12353886

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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.