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ORPHA:51

Aicardi-Goutières syndrome

low confidenceDisorder

Also known as: Encephalopathy with basal ganglia calcification · Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Publications

3,556

Trials

6

Interventional, condition-specific

Researchers

1,271

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited subacute characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF.

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 (5)

Aicardi Goutieres syndrome · Aicardi-Goutières Syndrome · Cree encephalitis · encephalopathy with basal ganglia calcification · encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

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

    3,556 matched papers (2,714 in last 10 years) Source

  3. Phenotype characterisedPresent

    343 HPO annotations (e.g. Cerebral calcification; Hemolytic anemia; Thrombocytopenia) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. emtricitabine Source

  6. Interventional trialPresent

    6 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

343

Associated phenotypes · MONDO:0018866

  • Cerebral calcification
  • Hemolytic anemia
  • Thrombocytopenia
  • Microcephaly
  • Basal ganglia calcification

Showing 5 of 343 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA emtricitabineTreatment of Aicardi-Goutières syndrome · 15/01/2015 · PositiveEMA designation
  • EMA tenofovir disoproxil fumarateTreatment of Aicardi-Goutières syndrome · 15/01/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

8

Drugs / clinical candidates · MONDO_0018866

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,556

3,556 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.

3,556 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).

2,714 in the last 10 years · low confidence

Phrase hits: 3,556 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,271

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
    Vanderver A25 papers · 2026

    Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: vandervera@chop.edu.

    Papers in Europe PMC
  2. 02
    Orcesi S22 papers · 2026

    Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.

    Papers in Europe PMC
  3. 03
    Gavazzi F20 papers · 2026

    Division of Neurology, Children's Hospital of Philadelphia, United States.

    Papers in Europe PMC
  4. 04
    Fazzi E17 papers · 2026

    Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  5. 05
    Crow YJ13 papers · 2026

    University of Edinburgh, Edinburgh, United Kingdom

    Papers in Europe PMC
  6. 06
    Adang L12 papers · 2026

    University of Pennsylvania School of Medicine

    Papers in Europe PMC
  7. 07
    Tonduti D12 papers · 2026

    Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Woidill S12 papers · 2026

    Department of Neurology, Children’s Hospital of Philadelphia, PA, 19104, USA

    Papers in Europe PMC
  9. 09
    Galli J11 papers · 2026

    Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  10. 10
    Adang LA10 papers · 2026

    Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: adangl@email.chop.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 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.

Observational and natural-history studies

3 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

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 (2)

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 Aicardi-Goutières syndrome — 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.

("Aicardi-Goutières syndrome" OR "Encephalopathy with basal ganglia calcification" OR "Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" OR "Encephalopathy with intracranial calcification and chronic lymphocytosis of the cerebrospinal fluid" OR "Aicardi Goutieres syndrome" OR "Cree encephalitis")

Run this search on Europe PMC

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

"Aicardi-Goutières syndrome" OR "Encephalopathy with basal ganglia calcification" OR "Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" OR "Encephalopathy with intracranial calcification and chronic lymphocytosis of the cerebrospinal fluid" OR "Aicardi Goutieres syndrome" OR "Cree encephalitis"

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: 6 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (3556) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:14:46.038Z