ORPHA:90281
Discoid lupus erythematosus
Publications
5,391
91.7th percentile
Trials
25
Interventional, condition-specific
Researchers
905
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019558
- MeSH:D008179
- UMLS:C5574816
- NCIT:C26820
Additional Mondo synonyms (1)
DLE
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5,391 matched papers (2,691 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Squamous cell carcinoma of the skin; Hypopigmentation of the skin; Erythematous papule) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
25 matched on ClinicalTrials.gov (2 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)
10
Associated phenotypes · MONDO:0019558
- Squamous cell carcinoma of the skin
- Hypopigmentation of the skin
- Erythematous papule
- Scarring alopecia of scalp
- Follicular hyperkeratosis
Showing 5 of 10 — 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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
20
Drugs / clinical candidates · MONDO_0019558
- ARTENIMOL·phase 2
- DAXDILIMAB·phase 2
- DELGOCITINIB·phase 2
- DEUCRAVACITINIB·phase 2
- DOVRAMILAST·phase 2
- EFALIZUMAB·phase 2
- ENPATORAN·phase 2
- ETANERCEPT·phase 2
- LEVOSALBUTAMOL·phase 2
- R-333·phase 2
- RUXOLITINIB·phase 2
- SECUKINUMAB·phase 2
- TANZISERTIB·phase 2
- THALIDOMIDE·phase 2
- AMG-811·phase 1
CTD chemicals (MyDisease.info)
6 associated chemicals · 12 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Adrenal Cortex Hormones · therapeutic
- Antimalarials · therapeutic
- Azathioprine · therapeutic
- Chloroquine · therapeutic
- Hydroxychloroquine · therapeutic
- Thalidomide · therapeutic
Pathways: Base excision repair; Recognition and association of DNA glycosylase with site containing an affected pyrimidine; Cleavage of the damaged pyrimidine; Recognition and association of DNA glycosylase with site containing an affected purine; Cleavage of the damaged purine; Displacement of DNA glycosylase by APEX1; APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway; DNA Repair
Literature
Is anyone studying this?
5,391
5,391 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.
5,391 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).
2,691 in the last 10 years · medium confidence · 91.7th percentile (publications denominator)
Phrase hits: 5,388 · MeSH hits: 11
Who's working on it?
905
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.
- 01Werth VP6 papers · 2026
Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania.
Papers in Europe PMC - 02Ayyanar P4 papers · 2026
Pathology and Lab Medicine, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, India .
Papers in Europe PMC - 03
- 04Khosravi-Hafshejani T4 papers · 2026
Department of Dermatology, Perelman SchoAmerican Academy of Dermatology and Society of Investigative Dermatologyol of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 05Sethy M4 papers · 2026
Pathology and Lab Medicine, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, India .
Papers in Europe PMC - 06Ali H3 papers · 2025
Department of Dermatology, Perelman SchoAmerican Academy of Dermatology and Society of Investigative Dermatologyol of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 07Chambers S3 papers · 2025
Department of Dermatology, Perelman SchoAmerican Academy of Dermatology and Society of Investigative Dermatologyol of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 08Chen J3 papers · 2025
Department of Rheumatology, Shanghai Skin Disease Hospital, Tongji University; 1500155@tongji.edu.cn.
Papers in Europe PMC - 09Gehlhausen JR3 papers · 2026
Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
Papers in Europe PMC - 10Li X3 papers · 2026
Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, 210000, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
25
interventional trials for this specific condition
25 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 11 September 2026
25 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.5th percentile).
medium confidence · 95.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
25 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07557927·NOT YET RECRUITING·A Multicentre, Randomised, Double-blind, Positive-control Clinical Trial Evaluating Dihydroartemisinin Tablets for the Treatment of Discoid Lupus Erythematosus
Not reviewed·Conditions: Discoid Lupus Erythematosus·Matched via name phrase
- NCT06261021·RECRUITING·Study to Evaluate the Efficacy of Ruxolitinib 1.5% Cream in Adult Subjects with Discoid Lupus Erythematosus
Not reviewed·Conditions: Discoid Lupus Erythematosus·Matched via name phrase
Observational and natural-history studies
5 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.
None of the matched observational studies is currently listed as recruiting.
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 9 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · dropped 0 · fetched 2026-07-30
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 (8)
- ctis·2025-524855-30-00·Authorised·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Parallel Study to Evaluate the Efficacy and Safety of Enpatoran in Participants with Active Cutaneous Manifestations of Lupus Erythematosus With or Without Systemic Disease Receiving Standard of Care
skipped — LLM skipped (--skip-llm)
- ctis·2024-510871-39-00·Expired·A Phase 2, Double-blind, Dose-Ranging, Parallel, Long-term Extension Study to Evaluate the Safety and Efficacy of Enpatoran in Participants with Subacute Cutaneous Lupus Erythematosus, Discoid Lupus Erythematosus and/or Systemic Lupus Erythematosus Having Completed the WILLOW (MS200569_0003) Study Treatment (WILLOW LTE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-510872-18-00·Cancelled·A Phase 2, Randomized, Double-Blind, Placebo-Controlled Dose-Ranging, Parallel and Adaptive Study to Evaluate the Efficacy and Safety of Enpatoran in Systemic Lupus Erythematosus and in Cutaneous Lupus Erythematosus (Subacute Cutaneous Lupus Erythematosus and/or Discoid Lupus Erythematosus) Participants Receiving Standard of Care
skipped — LLM skipped (--skip-llm)
- ctis·2023-509746-35-00·Cancelled·A Phase 2, multicenter, randomized, double-blind, placebo-controlled, parallel-group trial to investigate the efficacy and safety of daxdilimab subcutaneous injection in reducing disease activity in adult participants with moderate-to-severe primary discoid lupus erythematosus.
skipped — LLM skipped (--skip-llm)
- ctis·2022-503009-39-00·Cancelled·Multiple Ascending Doses of BMS-986326 in Participants with Discoid Lupus Erythematosus, Subacute Cutaneous Lupus Erythematosus, or Systemic Lupus Erythematosus
skipped — LLM skipped (--skip-llm)
- ctis·2023-504161-22-00·Expired·A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy and Safety of Deucravacitinib (BMS-986165) in Participants with Active Discoid and/or Subacute Cutaneous Lupus Erythematosus (DLE/SCLE)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN86534580·No longer recruiting·PRINCIPLE: A clinical trial evaluating treatments for suspected and confirmed COVID-19 for recovery at home
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN31313147·No longer recruiting·The clinical and immunohistochemical effect of UVA-1 phototherapy on discoid lupus erythematosus (DLE): a randomised controlled trial
skipped — LLM skipped (--skip-llm)
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 Discoid lupus erythematosus — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"Discoid lupus erythematosus"
MeSH descriptor terms unioned into the query: Lupus Erythematosus, Discoid
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Discoid lupus erythematosus" OR "Lupus Erythematosus, Discoid"
Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 25 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DLE
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 2026-07-27T03:42:16.656Z