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ORPHA:93552

Pediatric systemic lupus erythematosus

high confidenceDisorder

Also known as: SLE, pediatric onset

Publications

8,654

94.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,044

Distinct authors in sample

Gene link

SAT1

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

SLE, paediatric onset

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 identifiedPresent

    Limited — SAT1

  2. LiteraturePresent

    8,654 matched papers (5,216 in last 10 years) Source

  3. Phenotype characterisedPresent

    54 HPO annotations (e.g. Childhood onset; Elevated erythrocyte sedimentation rate; Decreased circulating complement C3 concentration) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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?

Possibly — only limited evidence so far for SAT1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

54

Associated phenotypes · MONDO:0019725

  • Childhood onset
  • Elevated erythrocyte sedimentation rate
  • Decreased circulating complement C3 concentration
  • Decreased circulating complement C4 concentration
  • Abnormality of the urinary system

Showing 5 of 54 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,654

8,654 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.

8,654 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).

5,216 in the last 10 years · high confidence · 94.7th percentile (publications denominator)

Phrase hits: 464 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,044

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
    Poddighe D6 papers · 2024

    Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan, Kazakhstan.

    Papers in Europe PMC
  2. 02
    Dossybayeva K5 papers · 2024

    Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan, Kazakhstan.

    Papers in Europe PMC
  3. 03
    Mukusheva Z5 papers · 2024

    Clinical Academic Department of Pediatrics, National Research Center for Maternal and Child Health, Nur-Sultan, Kazakhstan.

    Papers in Europe PMC
  4. 04
    Zhang T5 papers · 2023

    Department of Rheumatology.

    Papers in Europe PMC
  5. 05
    Zhang Y5 papers · 2026

    Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.

    Papers in Europe PMC
  6. 06
    Zhou W5 papers · 2025

    Department of Nephrology and Rheumatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

    Papers in Europe PMC
  7. 07
    Abdukhakimova D4 papers · 2022

    Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan, Kazakhstan.

    Papers in Europe PMC
  8. 08
    Bilginer Y4 papers · 2025

    E.D. Batu, MD, MSc, U. Kaya Akca, MD, E. Sağ, MD, S. Demir, MD, Y. Bilginer, MD, MSc, S. Ozen, MD, MSc, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara.

    Papers in Europe PMC
  9. 09
    Lewandowski LB4 papers · 2024

    Lupus Genomics and Global Health Disparities Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. laura.lewandowski@nih.gov.

    Papers in Europe PMC
  10. 10
    Li Y4 papers · 2026

    Department of Rheumatology.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 789 trials are registered for systemic 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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: systemic lupus erythematosus

789

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

1 observational study matches 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.

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 65 · after dedupe 63 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 63 · 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 (63)

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 Pediatric 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.

("Pediatric systemic lupus erythematosus" OR "SLE, pediatric onset" OR "SLE, paediatric onset") OR ("SAT1" OR "SAT1 syndrome" OR "SAT1-related")

Run this search on Europe PMC

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

"Pediatric systemic lupus erythematosus" OR "SLE, pediatric onset" OR "SLE, paediatric onset"

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"systemic lupus erythematosus"

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

Ingested 2026-07-27T04:22:54.309Z