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ORPHA:220402

Limited cutaneous systemic sclerosis

low confidenceSubtype of disorder

Also known as: Limited cutaneous systemic scleroderma

Publications

1,668

Trials

10

Interventional, condition-specific

Researchers

1,240

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

limited cutaneous systemic scleroderma · limited scleroderma

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

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

    1,668 matched papers (1,028 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    10 matched on ClinicalTrials.gov (3 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,668

1,668 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=5449) is 41.

1,668 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,028 in the last 10 years · low confidence

Phrase hits: 1,666 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

1,240

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
    Campochiaro C6 papers · 2026

    Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Denton CP6 papers · 2026

    Center for Rheumatology, Royal Free London NHS Foundation Trust Hospital.

    Papers in Europe PMC
  3. 03
    Del Galdo F5 papers · 2026

    School of Medicine, University of Leeds, Leeds, UK.

    Papers in Europe PMC
  4. 04
    Khanna D5 papers · 2025

    Scleroderma Program, University of Michigan, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  5. 05
    Smith V5 papers · 2025

    Department of Internal Medicine and Department of Rheumatology Ghent University Hospital Ghent Belgium.

    Papers in Europe PMC
  6. 06
    Brodmann M4 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Hafner F4 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Jud P4 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Liu X4 papers · 2026

    The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China. Electronic address: drlxh@foxmail.com.

    Papers in Europe PMC
  10. 10
    Matucci-Cerinic M4 papers · 2026

    Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 409 trials are registered for systemic sclerosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).

low confidence · 91.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: systemic sclerosis

409

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

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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 cutaneous systemic sclerosis" OR "Limited cutaneous systemic scleroderma" OR "limited scleroderma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Scleroderma, Limited

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

"Limited cutaneous systemic sclerosis" OR "Limited cutaneous systemic scleroderma" OR "limited scleroderma" OR "Scleroderma, Limited"

Interventional trials matched via: 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: 10 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"systemic sclerosis"

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

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
  • Publication count (1668) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:53:09.895Z