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ORPHA:797

Sarcoidosis

medium confidenceDisorder

Also known as: Besnier-Boeck-Schaumann disease · Boeck sarcoid

Publications

90,046

99.7th percentile

Trials

185

Interventional, condition-specific

Researchers

1,058

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare multisystemic, autoinflammatory disorder of unknown characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.

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 (6)

Boeck's sarcoid · Boeck's sarcoidosis · Darier-Roussy sarcoid · besnier-Boeck-Schaumann syndrome · sarcoid · sarcoidosis

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

    90,046 matched papers (41,828 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

    185 matched on ClinicalTrials.gov (31 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?

90,046

90,046 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.

90,046 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).

41,828 in the last 10 years · medium confidence · 99.7th percentile (publications denominator)

Phrase hits: 90,046 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,058

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
    Gilotra NA7 papers · 2026

    Division of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, Maryland, United States.

    Papers in Europe PMC
  2. 02
    Jacquot R6 papers · 2026

    Department of Internal Medicine, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.

    Papers in Europe PMC
  3. 03
    Kodjikian L6 papers · 2026

    Department of Ophthalmology, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France; UMR CNRS 5510, Laboratoire MATEIS, INSA, Université Lyon 1, 69100 Villeurbanne, Lyon, France.

    Papers in Europe PMC
  4. 04
    Sève P6 papers · 2026

    Department of Internal Medicine, Lyon University Hospital, Lyon, France.

    Papers in Europe PMC
  5. 05
    El Jammal T5 papers · 2026

    Department of Internal Medicine, Lyon University Hospital, Lyon, France; Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude-Bernard University Lyon I, IBCP, 69007 Lyon, France.

    Papers in Europe PMC
  6. 06
    Abramowicz S4 papers · 2026

    Department of Internal Medicine, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France. Electronic address: stephane.abramowicz@outlook.com.

    Papers in Europe PMC
  7. 07
    Nagai T4 papers · 2026

    Department of Cardiovascular Medicine, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

    Papers in Europe PMC
  8. 08
    Anzai T3 papers · 2026

    Department of Cardiovascular Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Japan.

    Papers in Europe PMC
  9. 09
    Cargnelutti M3 papers · 2026

    Department of Internal Medicine, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.

    Papers in Europe PMC
  10. 10
    Chareonthaitawee P3 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

185

interventional trials for this specific condition

185 interventional trials matched this specific condition name; 31 currently recruiting in our sample.

Data as of 27 July 2026

185 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.2th percentile).

medium confidence · 99.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

122 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.

"Sarcoidosis" OR "Besnier-Boeck-Schaumann disease" OR "Boeck sarcoid" OR "Boeck's sarcoid" OR "Boeck's sarcoidosis" OR "Darier-Roussy sarcoid" OR "besnier-Boeck-Schaumann syndrome" OR "sarcoid"

Run this search on Europe PMC

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

"Sarcoidosis" OR "Besnier-Boeck-Schaumann disease" OR "Boeck sarcoid" OR "Boeck's sarcoid" OR "Boeck's sarcoidosis" OR "Darier-Roussy sarcoid" OR "besnier-Boeck-Schaumann syndrome" OR "sarcoid"

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: 185 interventional · 122 observational · 1 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:23:30.613Z