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ORPHA:35687

Erdheim-Chester disease

low confidenceDisorder

Publications

3,262

Trials

13

Interventional, condition-specific

Researchers

1,082

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Erdheim Chester Disease · lipogranulomatosis · polyostotic sclerosing histiocytosis

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.”

4/6 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

    3,262 matched papers (2,102 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Proptosis; Bone pain; Osteomyelitis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

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

  6. Interventional trialPresent

    13 matched on ClinicalTrials.gov (5 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)

41

Associated phenotypes · MONDO:0018153

  • Proptosis
  • Bone pain
  • Osteomyelitis
  • Osteolysis
  • Fatigue

Showing 5 of 41 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA vemurafenibTreatment of Erdheim-Chester disease · 27/02/2017 · PositiveEMA designation
  • FDA vemurafenib (Zelboraf)Erdheim-Chester Disease · 2016-08-02

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

9

Drugs / clinical candidates · MONDO_0018153

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,262

3,262 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.

3,262 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).

2,102 in the last 10 years · low confidence

Phrase hits: 3,262 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,082

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
    Go RS13 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  2. 02
    Goyal G13 papers · 2026

    Hematology-Oncology, University of Alabama at Birmingham, Birmingham, AL, USA.

    Papers in Europe PMC
  3. 03
    Vaglio A13 papers · 2026

    Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Firenze, Italy. augusto.vaglio@unifi.it.

    Papers in Europe PMC
  4. 04
    Emile JF12 papers · 2026

    Pathology Department, Ambroise-Paré Hospital, Boulogne, France.

    Papers in Europe PMC
  5. 05
    Haroche J12 papers · 2026

    Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.

    Papers in Europe PMC
  6. 06
    Pegoraro F12 papers · 2026

    Department of Experimental and Clinical Medicine, University of Firenze, Firenze, Italy.

    Papers in Europe PMC
  7. 07
    Diamond EL10 papers · 2026

    Neuro-oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

    Papers in Europe PMC
  8. 08
    Papo M10 papers · 2026

    Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.

    Papers in Europe PMC
  9. 09
    Amoura Z9 papers · 2026

    Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.

    Papers in Europe PMC
  10. 10
    Cohen-Aubart F9 papers · 2026

    Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026

13 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.5th percentile).

low confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Erdheim-Chester disease — 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.

"Erdheim-Chester disease" OR "Erdheim Chester Disease" OR "lipogranulomatosis" OR "polyostotic sclerosing histiocytosis"

Run this search on Europe PMC

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

"Erdheim-Chester disease" OR "Erdheim Chester Disease" OR "lipogranulomatosis" OR "polyostotic sclerosing histiocytosis"

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: 13 interventional · 11 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (3262) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:46:48.681Z