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ORPHA:646

Niemann-Pick disease type C

high confidenceDisorder

Publications

3,033

90th percentile

Trials

15

Interventional, condition-specific

Researchers

1,378

Distinct authors in sample

Gene link

—

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,033 matched papers (1,772 in last 10 years) Source

  3. Phenotype characterisedPresent

    145 HPO annotations (e.g. Gait disturbance; Hepatomegaly; Progressive neurologic deterioration) Source

  4. Animal modelPresent

    9 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    4 FDA designations (4 FDA orphan-indication approvals) — e.g. Miglustat Source

  6. 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)

145

Associated phenotypes · MONDO:0018982

  • Gait disturbance
  • Hepatomegaly
  • Progressive neurologic deterioration
  • Hearing impairment
  • Ataxia

Showing 5 of 145 — open Monarch for the full list.

Animal models (Monarch / Alliance)

9

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

4

Designations · 4 with FDA orphan-indication approval

  • FDA Miglustatniemann-pick disease type c · 2021-02-02 · Not FDA Approved for Orphan Indication
  • FDA Ursodeoxycholic acidNiemann-Pick Disease Type C · 2018-04-26 · Not FDA Approved for Orphan Indication
  • FDA N-acetyl-DL-leucineNiemann-Pick Disease Type C · 2018-02-22 · Not FDA Approved for Orphan Indication
  • FDA 2-hydroxypropyl-B-cyclodextrinNiemann Pick Disease Type C · 2013-02-18 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

9

Drugs / clinical candidates · MONDO_0018982

CTD chemicals (MyDisease.info)

3 associated chemicals · 7 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Clofibrate · therapeutic
  • perfluorooctanoic acid · therapeutic
  • Cholesterol · marker/mechanism

Pathways: Steroid biosynthesis; Lysosome; Metabolism; LDL-mediated lipid transport; Lipoprotein metabolism; Metabolism of lipids and lipoproteins; Lipid digestion, mobilization, and transport

MyDisease.info · MONDO:0018982

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=3967) is 59.

3,033 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,772 in the last 10 years · high confidence · 90th percentile (publications denominator)

Phrase hits: 3,033 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Irie T11 papers · 2026

    Graduate School of Life Sciences, Kumamoto University.

    Papers in Europe PMC
  2. 02
    Ishitsuka Y11 papers · 2026

    Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.

    Papers in Europe PMC
  3. 03
    Bremova-Ertl T10 papers · 2026

    Department of Neurology, LMU University Hospital, LMU Munich, 81377 Munich, Germany.

    Papers in Europe PMC
  4. 04
    Matsuo M9 papers · 2026

    Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.

    Papers in Europe PMC
  5. 05
    Gautschi 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
  6. 06
    Motoyama K8 papers · 2026

    Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.

    Papers in Europe PMC
  7. 07
    Strupp M8 papers · 2026

    Department of Neurology, LMU University Hospital, LMU Munich, 81377 Munich, Germany.

    Papers in Europe PMC
  8. 08
    Hahn A7 papers · 2026

    Department of Pediatric Neurology, Justus-Liebig-University Gießen, Gießen, Germany.

    Papers in Europe PMC
  9. 09
    Higashi T7 papers · 2026

    Priority Organization for Innovation and Excellence, Kumamoto University, Kumamoto, Japan.

    Papers in Europe PMC
  10. 10
    Kondo 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 11 September 2026

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

high confidence · 94th 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.

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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (5)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Niemann-Pick disease type C — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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