RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:635

Neuroblastoma

medium confidenceDisorder

Publications

174,119

99.9th percentile

Trials

545

Interventional, condition-specific

Researchers

1,609

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare embryonal tumor of neuroepithelial tissue arising from neural crest cells, typically presenting in infancy or early childhood. Its symptoms depend on tumor stage and location along the sympathetic nervous system, ranging from localized masses to metastatic disease involving the bone, bone marrow, liver, lymph nodes, lung, central nervous system, or skin. Unlike more benign peripheral neuroblastic tumors (intermixed ganglioneuroblastoma and ganglioneuroma), neuroblastoma is characterized by its potential for aggressive invasion and metastases.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

neural Crest tumor, malignant · neuroblastoma · neuroblastoma (Schwannian Stroma-poor) · neuroblastoma, malignant

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    174,119 matched papers (89,055 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    545 matched on ClinicalTrials.gov (102 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?

174,119

174,119 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

174,119 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).

89,055 in the last 10 years · medium confidence · 99.9th percentile (publications denominator)

Phrase hits: 174,119 · MeSH hits: 5,287

Open Europe PMC search

Who's working on it?

1,609

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
    Wang H4 papers · 2026

    3D BioOptima, 1338 Wuzhong Avenue, Suzhou 215104, China.

    Papers in Europe PMC
  2. 02
    Zhang Z4 papers · 2026

    Department of Hematology, Capital Center for Children's Health, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Broeglin A3 papers · 2026

    Cell Biology & Energy Metabolism, University Psychiatric Clinics (UPK) Basel, University of Basel, 4002 Basel, Switzerland.

    Papers in Europe PMC
  4. 04
    Cimetta E3 papers · 2025

    Fondazione Istituto di Ricerca Pediatrica Città della Speranza (IRP), Padova, Italy.

    Papers in Europe PMC
  5. 05
    Eckert A3 papers · 2026

    Neurobiology Laboratory for Brain Aging and Mental Health, University Psychiatric Clinics (UPK) Basel, University of Basel, 4002 Basel, Switzerland.

    Papers in Europe PMC
  6. 06
    Fusco P3 papers · 2025

    Fondazione Istituto di Ricerca Pediatrica Città della Speranza (IRP), Padova, Italy.

    Papers in Europe PMC
  7. 07
    Grimm A3 papers · 2026

    Cell Biology & Energy Metabolism, University Psychiatric Clinics (UPK) Basel, University of Basel, 4002 Basel, Switzerland.

    Papers in Europe PMC
  8. 08
    Li J3 papers · 2026

    Key Laboratory of Traditional Chinese Medicine for Tumors Integrated Therapy, Chongqing Administration of Traditional Chinese Medicine, Chongqing 400010, China.

    Papers in Europe PMC
  9. 09
    Liu J3 papers · 2025

    Department of Pathology, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  10. 10
    Micheli S3 papers · 2025

    Fondazione Istituto di Ricerca Pediatrica Città della Speranza (IRP), Padova, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

545

interventional trials for this specific condition

545 interventional trials matched this specific condition name; 102 currently recruiting in our sample.

Data as of 27 July 2026

545 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.7th percentile).

medium confidence · 99.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

545 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

84 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

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 2026-07-26

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.

"Neuroblastoma" OR "neural Crest tumor, malignant" OR "neuroblastoma (Schwannian Stroma-poor)" OR "neuroblastoma, malignant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neuroblastoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Neuroblastoma" OR "neural Crest tumor, malignant" OR "neuroblastoma (Schwannian Stroma-poor)" OR "neuroblastoma, malignant"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 545 interventional · 84 observational · 13 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:39:13.048Z