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ORPHA:220407

Limited systemic sclerosis

high confidenceSubtype of disorder

Also known as: Systemic sclerosis sine scleroderma

Publications

660

79.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,132

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

SSC without skin involvement · systemic sclerosis sine scleroderma · systemic sclerosis without skin involvement

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    660 matched papers (367 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPartial

    None under the specific name; 425 for broader category systemic sclerosis

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

660

660 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

660 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).

367 in the last 10 years · high confidence · 79.8th percentile (publications denominator)

Phrase hits: 660 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,132

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Khanna D5 papers · 2025

    University of Michigan, Ann Arbor.

    Papers in Europe PMC
  2. 02
    Brodmann M4 papers · 2025

    Division of Angiology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  3. 03
    Hafner F4 papers · 2025

    Division of Angiology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  4. 04
    Jud P4 papers · 2025

    Division of Angiology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  5. 05
    Matucci-Cerinic M4 papers · 2026

    Department of Experimental and Clinical Medicine, University of Florence, & Division of Rheumatology AOUC, Florence, Italy.

    Papers in Europe PMC
  6. 06
    Meinitzer A4 papers · 2025

    Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  7. 07
    Moazedi-Fürst F4 papers · 2025

    Division of Rheumatology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  8. 08
    Sampaio-Barros PD4 papers · 2023

    Division of Rheumatology, Hospital das Clinicas HCFMUSP Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

    Papers in Europe PMC
  9. 09
    Strohmaier H4 papers · 2025

    Center of Medical Research (ZMF), Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  10. 10
    Zanatta E4 papers · 2026

    Department of Rheumatology, University of Padua, Padua, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 425 trials are registered for systemic sclerosis, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

425 interventional trials matched systemic sclerosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: systemic sclerosis

425

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

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 43 · after dedupe 43 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 43 · 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 (43)

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 Limited systemic sclerosis — 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.

"Limited systemic sclerosis" OR "Systemic sclerosis sine scleroderma" OR "SSC without skin involvement" OR "systemic sclerosis without skin involvement"

Run this search on Europe PMC

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

"Limited systemic sclerosis" OR "Systemic sclerosis sine scleroderma" OR "SSC without skin involvement" OR "systemic sclerosis without skin involvement"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"systemic sclerosis"

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 2026-07-27T09:53:20.872Z