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ORPHA:90291

Systemic sclerosis

medium confidenceDisorder

Also known as: Systemic scleroderma

Publications

57,743

99.5th percentile

Trials

456

Interventional, condition-specific

Researchers

1,266

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma.

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)

SSc · Scleroderma, systemic · Systemic Scleroderma · systemic Scleroderma · systemic scleroderma · systemic sclerosis

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

    57,743 matched papers (29,770 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

    456 matched on ClinicalTrials.gov (140 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?

57,743

57,743 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=5449) is 41.

57,743 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).

29,770 in the last 10 years · medium confidence · 99.5th percentile (publications denominator)

Phrase hits: 57,743 · MeSH hits: 164

Open Europe PMC search

Who's working on it?

1,266

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
    Hughes M9 papers · 2026

    Centre for Musculoskeletal Research, Division of Musculoskeletal and Dermatological Science, School of Biological Sciences, Faculty of Biological Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.

    Papers in Europe PMC
  2. 02
    Denton CP8 papers · 2026

    Centre for Rheumatology, Division of Medicine, Royal Free Campus, University College London, London, UK.

    Papers in Europe PMC
  3. 03
    Ross L8 papers · 2026

    Department of Rheumatology, St Vincent's Hospital, Fitzroy, VIC, Australia.

    Papers in Europe PMC
  4. 04
    Kuwana M7 papers · 2026

    M. Kuwana, MD, PhD, Y. Isomura, MD, PhD, Department of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, Tokyo.

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

    Department of Rheumatology, Assistance Publique-Hôpitaux de Paris, Cochin Hospital, Université Paris Cité, Paris, France. Electronic address: yannick.allanore@me.com.

    Papers in Europe PMC
  6. 06
    Del Galdo F6 papers · 2026

    Department of Rheumatology, Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK.

    Papers in Europe PMC
  7. 07
    Matucci-Cerinic M6 papers · 2026

    Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), Scleroderma Unit, IRCCS San Raffaele Hospital, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy; Inflammation Fibrosis and Ageing Initiative (INFLAGE), Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    McMahan ZH6 papers · 2026

    Department of Medicine, Division of Rheumatology, UTHealth Houston, Houston, TX, USA.

    Papers in Europe PMC
  9. 09
    Smith V6 papers · 2026

    Department of Rheumatology, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium; Unit for Molecular Immunology and Inflammation, VIB Inflammation Research Centre, Ghent, Belgium. Electronic address: Vanessa.Smith@UGent.be.

    Papers in Europe PMC
  10. 10
    Zhang Y6 papers · 2026

    Department of Breast Surgery, General Surgery Center, The First Hospital of Jilin University, Changchun, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

456

interventional trials for this specific condition

456 interventional trials matched this specific condition name; 140 currently recruiting in our sample.

Data as of 27 July 2026

456 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.7th percentile).

medium confidence · 99.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

157 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.

"Systemic sclerosis" OR "Systemic scleroderma" OR "Scleroderma, systemic"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Scleroderma, Systemic

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

"Systemic sclerosis" OR "Systemic scleroderma" OR "Scleroderma, systemic"

Interventional trials matched via: both, 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: 456 interventional · 157 observational · 1 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: SSc

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 2026-07-27T03:43:35.746Z