Aicardi Goutieres Syndrome Advocacy Association
Aicardi Goutieres Syndrome
AGS primarily affects the developing brain and immune system of infants and toddlers, most often resulting in profound developmental delays, lifelong physical impairments, and persistent neurological changes.
Patient population
- 2 in 10000 prevalence
- 400 patients engaged
- 200 patients in the US
- 1,000 patients globally
Disease categories
Associated genes
About us
Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families
Website
Therapeutics of interest
Therapeutics in development
Members
Edie Crosse
Betty Trevino
Devon Cordova
Requests for proposals
Research plans
Title | Research strategy | Stage | Status | Partners | Description | Links | Number of projects |
|---|---|---|---|---|---|---|---|
Gene Therapy Research Plan - ADAR1 | Gene replacement therapy | -- | -- | -- | This research plan is designed to develop and evaluate therapeutic strategies that utilize AAV technologies to deliver a gene to target cells in the body, with the hope of treating and potentially curing inherited or acquired diseases at the molecular level. | -- | |
Antisense Oligonucleotide Therapy Targeting IFNAR | Antisense oligonucleotide (ASO) | -- | -- | -- | A collaborative research program led by the University of Sydney in partnership with Ionis Pharmaceuticals and Biogen. This project is developing an RNA-targeted antisense oligonucleotide (ASO) designed to suppress interferon alpha receptor (IFNAR) expression and thereby reduce neuroinflammation in Aicardi-Goutières Syndrome (AGS). Preclinical studies in AGS mouse models have demonstrated reduced interferon signaling, restoration of blood–brain barrier integrity, and reversal of neuronal damage, paving the way for IND-enabling development and first-in-human trials. | -- | |
Gene Therapy Research Plan - TREX1 | Gene replacement therapy | -- | -- | -- | This research plan is designed to develop and evaluate therapeutic strategies that utilize AAV technologies to deliver a gene to target cells in the body, with the hope of treating and potentially curing inherited or acquired diseases at the molecular level. | -- | |
cGAS Inhibitor - ImmuneSensor | Small molecule | -- | -- | -- | IMSB301 is an orally available small molecule inhibitor of the cGAS enzyme, designed to block activation of the cGAS–STING pathway and reduce excessive inflammation driven by type I interferons. It is being developed by ImmuneSensor Therapeutics, a clinical-stage biotherapeutics company based in Dallas, Texas, focused on targeting the cGAS–STING pathway for autoimmune, inflammatory, and oncologic diseases. | -- | |
The Myelin Disorders Biorepository Project (MDBP) | Other | -- | -- | -- | https://clinicaltrials.gov/study/NCT03047369?cond=Aicardi%20Goutieres%20Syndrome&rank=4 The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future. | -- |