RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:536

Systemic lupus erythematosus

medium confidenceDisorder

Also known as: Disseminated lupus erythematosus · SLE

Publications

206,111

99.8th percentile

Trials

853

Interventional, condition-specific

Researchers

1,348

Distinct authors in sample

Gene link

DNASE1, FCGR2B, P2RY8

Definitive

Readiness

6/6

Stages with a signal

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)

SLE - lupus erythematosus, systemic · disseminated lupus erythematosus · lupus erythematosus, systemic · systemic lupus erythematosus · systemic lupus erythematosus (disease) · systemic lupus erythematosus susceptibility to

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — DNASE1, FCGR2B, P2RY8, PACSIN1, PRKCD…

  2. LiteraturePresent

    206,111 matched papers (108,116 in last 10 years) Source

  3. Phenotype characterisedPresent

    243 HPO annotations (e.g. Abnormality of blood and blood-forming tissues; Cutaneous photosensitivity; Atrioventricular block) Source

  4. Animal modelPresent

    72 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    3 FDA designations (3 FDA orphan-indication approvals) — e.g. baricitinib Source

  6. Interventional trialPresent

    853 matched on ClinicalTrials.gov (245 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?

Yes — we know a specific gene responsible (DNASE1, FCGR2B, P2RY8…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

243

Associated phenotypes · MONDO:0007915

  • Abnormality of blood and blood-forming tissues
  • Cutaneous photosensitivity
  • Atrioventricular block
  • Anemia
  • Heart block

Showing 5 of 243 — open Monarch for the full list.

Animal models (Monarch / Alliance)

72

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)

3

Designations · 3 with FDA orphan-indication approval

  • FDA baricitinibSYSTEMIC LUPUS ERYTHEMATOSUS · 2017-11-02 · Not FDA Approved for Orphan Indication
  • FDA ustekinumabSYSTEMIC LUPUS ERYTHEMATOSUS · 2017-07-18 · Not FDA Approved for Orphan Indication
  • FDA DehydroepiandrosteroneSLE SYSTEMIC LUPUS ERYTHEMATOSUS · 1994-07-13 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

207

Drugs / clinical candidates · MONDO_0007915

CTD chemicals (MyDisease.info)

70 associated chemicals · 343 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • ((1-ethylpyrrolidin-2-yl) methyl)-4-hydroxy-7-methoxy-quinoline-3-carboxamide · therapeutic
  • Adrenal Cortex Hormones · therapeutic
  • Antimalarials · therapeutic
  • Aspirin · therapeutic
  • Azathioprine · therapeutic
  • Celecoxib · therapeutic
  • Chlorambucil · therapeutic
  • Chloroquine · therapeutic
  • chloroquine diphosphate · therapeutic
  • Cyclophosphamide · therapeutic
  • Diclofenac · therapeutic
  • Glucocorticoids · therapeutic

Pathways: Tryptophan metabolism; Arachidonic acid metabolism; Glyoxylate and dicarboxylate metabolism; Metabolic pathways; Carbon metabolism; EGFR tyrosine kinase inhibitor resistance; Antifolate resistance; Platinum drug resistance

MyDisease.info · MONDO:0007915

Literature

Is anyone studying this?

206,111

206,111 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.

206,111 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).

108,116 in the last 10 years · medium confidence · 99.8th percentile (publications denominator)

Phrase hits: 196,932 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,348

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 Y7 papers · 2026

    Department of Pediatrics, The First People's Hospital of Yunnan Province, Kunming, China.

    Papers in Europe PMC
  2. 02
    Chen Y6 papers · 2026

    Department of gynaecology and obstetrics, China Medical University, Chaoyang Central Hospital, No. 6, Section 2 of Chaoyang Avenue, Shuangta District, Chaoyang, 122000, Liaoning, China.

    Papers in Europe PMC
  3. 03
    Li S6 papers · 2026

    Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, China.

    Papers in Europe PMC
  4. 04
    Li X6 papers · 2026

    Department of Rheumatology & Immunology, Peking University People's Hospital, Beijing, China.

    Papers in Europe PMC
  5. 05
    Li Y6 papers · 2026

    Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children Beijing Key Laboratory of Precision Diagnosis and Treatment of Pediatric Immune Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

    Papers in Europe PMC
  6. 06
    Wang L6 papers · 2026

    Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing.

    Papers in Europe PMC
  7. 07
    Wang X6 papers · 2026

    The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  8. 08
    Zhang Y6 papers · 2026

    Department of Rheumatology and Immunology, Weifang No. 2 People's Hospital, Weifang, Shandong, China. Electronic address: 17865367335@163.com.

    Papers in Europe PMC
  9. 09
    Li Z5 papers · 2026

    Department of Rheumatology & Immunology, Peking University People's Hospital, Beijing, China. Electronic address: li99@bjmu.edu.cn.

    Papers in Europe PMC
  10. 10
    Liu C5 papers · 2026

    Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical University, Taipei, Taiwan, R.O.C.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

853

interventional trials for this specific condition

853 interventional trials matched this specific condition name; 245 currently recruiting in our sample. 67 trials are registered for lupus erythematosus, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

853 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.9th percentile).

medium confidence · 99.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: lupus erythematosus

67

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

290 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 154 · after dedupe 147 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 147 · 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 (147)

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 Systemic lupus erythematosus — 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.

("Systemic lupus erythematosus" OR "Disseminated lupus erythematosus" OR "SLE - lupus erythematosus, systemic" OR "lupus erythematosus, systemic" OR "systemic lupus erythematosus (disease)" OR "systemic lupus erythematosus susceptibility to") OR ("DNASE1" OR "DNASE1 syndrome" OR "DNASE1-related" OR "FCGR2B" OR "FCGR2B syndrome" OR "FCGR2B-related" OR "P2RY8" OR "P2RY8 syndrome" OR "P2RY8-related")

Run this search on Europe PMC

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

"Systemic lupus erythematosus" OR "Disseminated lupus erythematosus" OR "SLE - lupus erythematosus, systemic" OR "lupus erythematosus, systemic" OR "systemic lupus erythematosus (disease)" OR "systemic lupus erythematosus susceptibility to"

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: 853 interventional · 290 observational · 3 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lupus erythematosus"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SLE

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 2026-07-26T14:14:35.349Z