Aicardi Goutieres Syndrome Advocacy Association

Founded in 2018

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

Loss-of-Function

Associated genes

SAMHD1

TREX1

RNASEH2B

RNASEH2C

ADAR

IFIH1

LSM11

RNU7-1

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

https://agsaa.org/

Therapeutics of interest

Antibodies

Cell Therapies

Therapeutics in development

Other

Members

Edie Crosse

Scientific Director

Betty Trevino

Devon Cordova

Requests for proposals

0 of 0

Research plans

Published

Gene Therapy Research Plan - ADAR1

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.

Research strategy

Gene replacement therapy

Stage

---

Partners

---

Links

---

Published

Antisense Oligonucleotide Therapy Targeting IFNAR

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.

Research strategy

Antisense oligonucleotide (ASO)

Stage

---

Partners

---

Research strategy

Gene replacement therapy

Stage

---

Partners

---

Links

---

Published

cGAS Inhibitor - ImmuneSensor

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.

Research strategy

Small molecule

Stage

---

Partners

---

Links

---

Published

The Myelin Disorders Biorepository Project (MDBP)

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.

Research strategy

Other

Stage

---

Partners

---

Aicardi Goutieres Syndrome Advocacy Association