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ORPHA:90291

Systemic sclerosis

medium confidenceDisorder

Also known as: Systemic scleroderma

Publications

57,743

99th percentile

Trials

456

Interventional, condition-specific

Researchers

1,266

Distinct authors in sample

Gene link

—

Readiness

5/6

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.”

5/6 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 characterisedPresent

    134 HPO annotations (e.g. Thickened skin; Abnormality of the gastrointestinal tract; Cutaneous sclerotic plaque) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    15 FDA · 5 EMA designations (15 FDA orphan-indication approvals) — e.g. Belumosudil Source

  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)

134

Associated phenotypes · MONDO:0005100

  • Thickened skin
  • Abnormality of the gastrointestinal tract
  • Cutaneous sclerotic plaque
  • Nail bed telangiectasia
  • Muscle weakness

Showing 5 of 134 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

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)

30

Designations · 15 with FDA orphan-indication approval

  • FDA BelumosudilSystemic sclerosis · 2020-09-04 · Not FDA Approved for Orphan Indication
  • FDA treprostinilSystemic sclerosis · 2020-06-08 · Not FDA Approved for Orphan Indication
  • FDA Immune Globulin Intravenous (Human)Systemic sclerosis · 2020-01-28 · Not FDA Approved for Orphan Indication
  • FDA ZiritaxestatSystemic sclerosis · 2020-01-27 · Not FDA Approved for Orphan Indication
  • FDA RomilkimabSystemic sclerosis · 2019-08-21 · Not FDA Approved for Orphan Indication
  • FDA iloprostSystemic sclerosis · 2019-05-09 · Not FDA Approved for Orphan Indication
  • FDA diosminSystemic sclerosis · 2018-05-15 · Not FDA Approved for Orphan Indication
  • FDA 1-(6-benzothiazolylsulfonyl)-5-chloro-1H-indole-2-butanoic acidSystemic sclerosis · 2015-03-31 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

114

Drugs / clinical candidates · MONDO_0005100

CTD chemicals (MyDisease.info)

34 associated chemicals · 152 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • (3R)-((2,3-dihydro-5-methyl-3-((4-morpholinyl)methyl)pyrrolo-(1,2,3-de)-1,4-benzoxazin-6-yl)(1-naphthalenyl))methanone · therapeutic
  • Alprostadil · therapeutic
  • Angiotensin-Converting Enzyme Inhibitors · therapeutic
  • Azathioprine · therapeutic
  • Cannabinoids · therapeutic
  • Cyclophosphamide · therapeutic
  • Dihydroergotamine · therapeutic
  • Griseofulvin · therapeutic
  • Imatinib Mesylate · therapeutic
  • Immunosuppressive Agents · therapeutic
  • lenabasum · therapeutic
  • Methylprednisolone · therapeutic

Pathways: Rap1 signaling pathway; FoxO signaling pathway; Sphingolipid signaling pathway; Neuroactive ligand-receptor interaction; Phagosome; PI3K-Akt signaling pathway; AMPK signaling pathway; Longevity regulating pathway

MyDisease.info · MONDO:0005100

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=3967) is 59.

57,743 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).

29,770 in the last 10 years · medium confidence · 99th 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 11 September 2026

456 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; 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

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 178 · after dedupe 172 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 172 · 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 (172)

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 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.

"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