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ORPHA:425120

STING-associated vasculopathy with onset in infancy

low confidenceDisorder

Also known as: SAVI

Publications

5,345

Trials

1

Interventional, condition-specific

Researchers

1,195

Distinct authors in sample

Gene link

STING1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by or onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and , in association with interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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 identifiedPresent

    Strong — STING1

  2. LiteraturePresent

    5,345 matched papers (4,982 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Pustular rash; Thrombocytosis; Livedo reticularis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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?

Yes — we know a specific gene responsible (STING1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0014405

  • Pustular rash
  • Thrombocytosis
  • Livedo reticularis
  • Nailfold capillary tortuosity
  • Failure to thrive

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

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

1

Drugs / clinical candidates · MONDO_0014405

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,345

5,345 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.

5,345 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).

4,982 in the last 10 years · low confidence

Phrase hits: 777 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,195

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
    Frémond ML12 papers · 2026

    Université de Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, 24 boulevard du Montparnasse, F-75015, Paris, France. marie-louise.fremond@aphp.fr.

    Papers in Europe PMC
  2. 02
    Goldbach-Mansky R11 papers · 2026

    Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA goldbacr@mail.nih.gov.

    Papers in Europe PMC
  3. 03
    Crow YJ10 papers · 2026

    Paris Descartes University, Sorbonne-Paris-Cité, Laboratory of Neurogenetics & Neuroinflammation Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.

    Papers in Europe PMC
  4. 04
    Belot A8 papers · 2026

    Pediatric Rheumatology, Nephrology and Dermatology Department, Hospices Civils de Lyon, Lyon, France; CIRI, Centre International de Recherche en Infectiologie, INSERM, U1111, CNRS UMR5308, Ecole Normale Supérieure de Lyon, Université Lyon 1, Lyon, France.

    Papers in Europe PMC
  5. 05
    Fitzgerald KA8 papers · 2026

    Program in Innate Immunity, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605.

    Papers in Europe PMC
  6. 06
    Neven B7 papers · 2023

    Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, Institut Imagine Institut des Maladies Genetiques, Paris, Île-de-France, France.

    Papers in Europe PMC
  7. 07
    Ozen S7 papers · 2026

    Department of Pediatric Rheumatology, Hacettepe University, Ankara, Türkiye.

    Papers in Europe PMC
  8. 08
    Bader-Meunier B6 papers · 2026

    Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP, Centre - Université de Paris, Paris, France.

    Papers in Europe PMC
  9. 09
    Gattorno M6 papers · 2026

    Center for Autoinflammatory diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

    Papers in Europe PMC
  10. 10
    Marshak-Rothstein A6 papers · 2026

    Program in Innate Immunity, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605.

    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.

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).

low 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.

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

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 STING-associated vasculopathy with onset in infancy — 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.

("STING-associated vasculopathy with onset in infancy") OR ("STING1" OR "STING1 syndrome" OR "STING1-related")

Run this search on Europe PMC

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

"STING-associated vasculopathy with onset in infancy"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SAVI

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
  • Publication count (5345) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:58:32.842Z