Aicardi-Goutieres syndrome
MONDO:0018866
Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
Disease research snapshot
CureCurrent currently links 2 distinct registered clinical trials to Aicardi-Goutieres syndrome through its MONDO disease mappings. 1 of those studies have the registry status “recruiting” (50%). These are registry statuses, not availability guarantees, study results or evidence of effectiveness.
The leading sponsor shown in this linked dataset is Children's Hospital of Philadelphia, associated with 2 distinct linked trials. This is a count of records, not a ranking of the sponsor's scientific quality.
The highest-count mapped research city in the current result is Philadelphia, United States. Only site locations available in the published registry projection are counted; some trial sites may be missing or outdated.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
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Investigated drug interventions
Aicardi–Goutières syndrome
Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder). The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of in utero acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus (SLE). Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi–Goutières syndrome' (AGS) in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001. AGS can occur due to mutations in any one of a number of different genes, of which nine have been identified to date, namely: TREX1, RNASEH2A, RNASEH2B, RNASEH2C (which together encode the ribonuclease H2 enzyme complex), SAMHD1, ADAR1, and IFIH1 (coding for MDA5). This neurological disease occurs in all populations worldwide, although it is almost certainly under-diagnosed. To date (2014) at least 400 cases of AGS are known.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Clinical trials
2 shownDrugs being studied
Research locations
Leading sponsors
How to interpret this record
CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.