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ORPHA:389

Langerhans cell histiocytosis

medium confidenceDisorder

Also known as: Histiocytosis X · Langerhans cell granulomatosis

Publications

14,207

96.1th percentile

Trials

58

Interventional, condition-specific

Researchers

1,109

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues.

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 (4)

LCH · Langerhans cell histiocytosis, NOS · Langerhans cell histiocytosis, Not otherwise specified · histiocytosis X

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

    14,207 matched papers (7,143 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Stomatitis; Irritability; Pallor) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. vemurafenib Source

  6. Interventional trialPresent

    58 matched on ClinicalTrials.gov (14 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)

42

Associated phenotypes · MONDO:0018310

  • Stomatitis
  • Irritability
  • Pallor
  • Pulmonary infiltrates
  • Abnormality of the skeletal system

Showing 5 of 42 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA vemurafenibTreatment of Langerhans' cell histiocytosis · 30/05/2016 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

35

Drugs / clinical candidates · MONDO_0018310

CTD chemicals (MyDisease.info)

6 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • afuresertib · therapeutic
  • Cisplatin · therapeutic
  • JET protocol · therapeutic
  • Pamidronate · therapeutic
  • Prednisone · therapeutic
  • Vinblastine · therapeutic

MyDisease.info · MONDO:0018310

Literature

Is anyone studying this?

14,207

14,207 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=3967) is 59.

14,207 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).

7,143 in the last 10 years · medium confidence · 96.1th percentile (publications denominator)

Phrase hits: 14,207 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,109

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 Y6 papers · 2026

    Department of Radiology, Shenzhen Second People's Hospital, Health Science Center of Shenzhen University, Shenzhen, China.

    Papers in Europe PMC
  2. 02
    Zhang L6 papers · 2026

    Department of Pathology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Zhang R6 papers · 2026

    Department of Hematology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi Road, Xicheng District, Beijing, 100045, China. ruizh1973@126.com.

    Papers in Europe PMC
  4. 04
    Donadieu J5 papers · 2026

    Service d'Hémato-oncologie Pédiatrique, Hôpital Armand Trousseau Aphp, Paris, France.

    Papers in Europe PMC
  5. 05
    Liu Y5 papers · 2026

    Department of Pathology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Ma H4 papers · 2026

    Department of Hematology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi Road, Xicheng District, Beijing, 100045, China.

    Papers in Europe PMC
  7. 07
    Pegoraro F4 papers · 2026

    Department of Hematology and Oncology, Meyer Children's Hospital IRCCS, Florence; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.

    Papers in Europe PMC
  8. 08
    Sieni E4 papers · 2026

    Department of Hematology and Oncology Meyer Children's Hospital IRCCS Florence Italy.

    Papers in Europe PMC
  9. 09
    Tazi A4 papers · 2026

    Assistance Publique Hôpitaux De Paris, Service De Pneumologie, Centre De Référence National Histiocytoses, Hôpital Saint Louis, Paris, France.

    Papers in Europe PMC
  10. 10
    Wang C4 papers · 2026

    Department of Pathology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

58

interventional trials for this specific condition

58 interventional trials matched this specific condition name; 14 currently recruiting in our sample. 10 trials are registered for histiocytosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

58 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.4th percentile).

medium confidence · 97.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: histiocytosis

10

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.

Recruiting under the broader category

Observational and natural-history studies

14 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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Langerhans cell histiocytosis — 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.

"Langerhans cell histiocytosis" OR "Histiocytosis X" OR "Langerhans cell granulomatosis" OR "Langerhans cell histiocytosis, NOS" OR "Langerhans cell histiocytosis, Not otherwise specified"

Run this search on Europe PMC

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

"Langerhans cell histiocytosis" OR "Histiocytosis X" OR "Langerhans cell granulomatosis" OR "Langerhans cell histiocytosis, NOS" OR "Langerhans cell histiocytosis, Not otherwise specified"

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: 58 interventional · 14 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"histiocytosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LCH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:40:23.907Z