ORPHA:646
Niemann-Pick disease type C
Publications
3,033
95.3th percentile
Trials
15
Interventional, condition-specific
Researchers
1,378
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained jaundice or cholestasis, isolated unexplained , and , often severe neurological symptoms such as cognitive decline, cerebellar , vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, , gelastic cataplexy, and psychiatric disorders.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018982
- MeSH:D052556
- UMLS:C0220756
Additional Mondo synonyms (1)
Niemann Pick Disease Type C
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,033 matched papers (1,772 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
15 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3,033
3,033 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,033 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,772 in the last 10 years · high confidence · 95.3th percentile (publications denominator)
Phrase hits: 3,033 · MeSH hits: 0
Who's working on it?
1,378
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01
- 02Ishitsuka Y11 papers · 2026
Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Papers in Europe PMC - 03Bremova-Ertl T10 papers · 2026
Department of Neurology, LMU University Hospital, LMU Munich, 81377 Munich, Germany.
Papers in Europe PMC - 04Matsuo M9 papers · 2026
Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
Papers in Europe PMC - 05Gautschi M8 papers · 2026
From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).
Papers in Europe PMC - 06Motoyama K8 papers · 2026
Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Papers in Europe PMC - 07Strupp M8 papers · 2026
Department of Neurology, LMU University Hospital, LMU Munich, 81377 Munich, Germany.
Papers in Europe PMC - 08Hahn A7 papers · 2026
Department of Pediatric Neurology, Justus-Liebig-University Gießen, Gießen, Germany.
Papers in Europe PMC - 09Higashi T7 papers · 2026
Priority Organization for Innovation and Excellence, Kumamoto University, Kumamoto, Japan.
Papers in Europe PMC - 10Kondo Y7 papers · 2026
Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
15
interventional trials for this specific condition
15 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 12 trials are registered for Niemann-Pick disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
15 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.5th percentile).
high confidence · 93.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
15 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05163288·RECRUITING·A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
Conditions: Niemann-Pick Disease, Type C·Matched via name phrase
Broader category: Niemann-Pick disease
12
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Observational and natural-history studies
7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00344331·RECRUITING·Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Conditions: Niemann-Pick Disease, Type C·Matched via name phrase
- NCT05368038·ENROLLING BY INVITATION·ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Conditions: Acid Sphingomyelinase Deficiency · Ceroid Lipofuscinosis, Neuronal, 2 · Cerebrotendinous Xanthomatosis · Fabry Disease·Matched via name phrase
- NCT05588167·RECRUITING·Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Conditions: Niemann-Pick Disease, Type C·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Niemann-Pick disease type C" OR "Niemann Pick Disease Type C"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Niemann-Pick disease type C" OR "Niemann Pick Disease Type C"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 15 interventional · 7 observational · 1 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Niemann-Pick disease"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:43:20.643Z