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ORPHA:797

Sarcoidosis

medium confidenceDisorder

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

Publications

90,046

99.4th percentile

Trials

185

Interventional, condition-specific

Researchers

1,058

Distinct authors in sample

Gene link

—

Readiness

4/6

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.”

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

    90,046 matched papers (41,828 in last 10 years) Source

  3. Phenotype characterisedPresent

    148 HPO annotations (e.g. Hyperthyroidism; Hypothermia; Alopecia) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    12 FDA · 4 EMA designations (12 FDA orphan-indication approvals) — e.g. Aviptadil Source

  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)

148

Associated phenotypes · MONDO:0019338

  • Hyperthyroidism
  • Hypothermia
  • Alopecia
  • Hypercalciuria
  • Abnormal cerebrospinal fluid morphology

Showing 5 of 148 — 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)

16

Designations · 12 with FDA orphan-indication approval

  • FDA AviptadilSarcoidosis · 2020-07-23 · Not FDA Approved for Orphan Indication
  • FDA Alidornase alfaSarcoidosis · 2020-07-21 · Not FDA Approved for Orphan Indication
  • FDA 5-(4-((2S,5S)-5-(4-chlorobenzyl)-2-methylmorpholino)piperidin-1-yl)-1H-1,2,4-triazol-3-amineSarcoidosis · 2020-01-14 · Not FDA Approved for Orphan Indication
  • FDA dornase alfaSarcoidosis · 2019-06-04 · Not FDA Approved for Orphan Indication
  • FDA golimumabSarcoidosis · 2012-05-21 · Not FDA Approved for Orphan Indication
  • FDA ustekinumabSarcoidosis · 2011-12-28 · Not FDA Approved for Orphan Indication
  • FDA thymopentinSarcoidosis · 2011-02-04 · Not FDA Approved for Orphan Indication
  • FDA Clindamycin hydrochlorideSarcoidosis · 2006-08-09 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

45

Drugs / clinical candidates · MONDO_0019338

CTD chemicals (MyDisease.info)

8 associated chemicals · 126 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Chloroquine · therapeutic
  • Memantine · therapeutic
  • Methylprednisolone · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Thalidomide · therapeutic
  • Cyclophosphamide · marker/mechanism
  • Free Radicals · marker/mechanism

Pathways: MAPK signaling pathway; Cytokine-cytokine receptor interaction; FoxO signaling pathway; Cell cycle; Lysosome; Endocytosis; Phagosome; Peroxisome

MyDisease.info · MONDO:0019338

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=3967) is 59.

90,046 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).

41,828 in the last 10 years · medium confidence · 99.4th 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 11 September 2026

185 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; 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

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 56 · after dedupe 54 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 54 · 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 (54)

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 Sarcoidosis — 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.

"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