Evidence map›Paper›PMID 42693440›Full record

ArticleOrphanet journal of rare diseases2026

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.

Beth I Solomon, Andrea M Munoz, Aiden Borruso, Ninet Sinaii, Nicole Farhat, Derek Alexander, Desiree A Labor, An Dang Do, Forbes D Porter

Registry-linked trialAbstract read
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In one paragraph

Article in Orphanet journal of rare diseases, 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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1 · What the graph read from it

What it found

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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

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.

Beth I SolomonSpeech-Language Pathology Section, Rehabilitation Medicine Department, Mark O. Hatfield Clinical Center, National Institutes of Health, Bethesda, MD, USA. Bsolomon@nih.gov.
Andrea M MunozDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Aiden BorrusoDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Ninet SinaiiBiostatistics and Clinical Epidemiology Service, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Nicole FarhatDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Derek AlexanderDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Desiree A LaborDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
An Dang DoDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Forbes D PorterDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNiemann-Pick disease type C1 (NPC1) is a rare neurodegenerative disorder in which dysphagia is common and aspiration pneumonia is a leading cause of mortality. Aspiration may be clinically apparent or silent, reflecting impaired airway sensation and protective reflexes. We aimed to characterize aspiration and silent aspiration in the National Institutes of Health (NIH) NPC1 Natural History Study (NCT00344331). We analyzed 130 participants with NPC1 enrolled between 2006 and 2024 who underwent speech-language pathology swallowing evaluations, including clinically indicated videofluoroscopic swallow studies (VFSS). Aspiration risk was rated using the NIH Penetration-Aspiration Scale (NIH-PAS). Silent aspiration was defined as aspiration on VFSS without cough, throat clearing, or wet vocal quality. Longitudinal models examined the presence of silent aspiration alone or (2) a NIH-PAS score > 1 (moderate-profound aspiration) or silent aspiration. Covariates included demographics, neurologic disease onset and duration, body weight/BMI, reflux and seizure medications, miglustat use, NPC Neurological Severity Score (NSS) 5-domain total and subscores (including swallow and respiratory), and the Annualized Severity Increment Score (ASIS).

resultsSilent aspiration occurred in 24/130 (18.4%) participants. Among these, 50% demonstrated recurrent silent aspiration at subsequent visits, and 58.3% exhibited intermittent silent aspiration on follow-up. Considering aspiration risk, 27/130 (20.8%) had NIH-PAS > 1, including all silent aspirators. Silent aspiratiors alone had worse NIH-PAS, higher total NSS with poorer swallow, speech, ambulation, and fine-motor subscores, and higher ASIS. Patients with silent aspiration or NIH-PAS > 1 had an increased aspiration risk with longer neurologic symptom duration, seizure history, higher NSS, higher ASIS, and in children with lower weight percentile. Miglustat use was protective in the overall cohort, but not in the pediatric subgroup (< 20 years-old). Mean time to silent aspiration was ~ 10 years from neurologic symptom onset, with no difference by neurological disease onset.

conclusionSilent aspiration is common in NPC1 and closely linked to advancing neurologic disease severity than to age-of-onset phenotype. Bedside clinical evaluations may underestimate silent aspiration; proactive longitudinal swallowing surveillance is warranted in individuals with higher NSS/ASIS scores, seizure history, pediatric weight decline, or evolving motor-speech impairment. These findings support incorporating overt and silent aspiration alongside swallowing function, into routine care and therapeutic trials.

Indexed as

Niemann-Pick Disease, Type CPneumonia, AspirationAdolescentAdultChildChild, PreschoolDeglutition DisordersFemaleHumansInfantLongitudinal StudiesMaleNational Institutes of Health (U.S.)United StatesYoung AdultAspirationDysphagiaMiglustatNeurodegenerativeNiemann–Pick disease type C1NPC1 Neurologic Severity ScoreSeizures, SwallowingSilent aspiration

Identifiers

PMID42693440
PMCPMC13539892

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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.