Aicardi-Goutieres Syndrome Advocacy Association- AGSAA

01/05/2026

We've just received some updated information from CHOP on recruitment for the upcoming trial for drug BI 3000202 (https://clinicaltrials.gov/study/NCT06878365):

"CHOP is participating in a new clinical trial on type 1 interferonopathies, including AGS. The purpose of the study is to find out how a new study drug (BI 3000202) is tolerated in patients with AGS and other type 1 interferonopathies. This drug blocks STING, which is part of how cells make interferon. Interferon is thought to cause many of the symptoms of AGS, and understanding if this medication helps to block
Interferon may help define this as a new treatment in AGS.

At this time, the study is only enrolling adults, 18 years of age and older.

The study involves taking the study medication in tablet form, by mouth, twice a day, for at least 40 weeks, and a possible extended treatment period. Participation in the study lasts for at least 11 months and up to 24 months. The trial involves 13 to 18 on-site visits.

Each study visit involves different procedures, including:
• Physical exam and vital signs,
• Blood and urine collection,
• Electrocardiogram (or EKG/heart rhythm test),
• Questionnaires,
• CSF collection via lumbar puncture (optional).

Three of the study visits will include several blood collections to measure how the body processes the study medication (called pharmacokinetics – PKs), with blood draws at several time points over at least 4 hours.

Participation is completely voluntary. Please note that enrollment is currently closing at the end of January 2026. If you are interested, please reach out to [email protected], and we will share more details and answer any questions you may have."

11/07/2025

We’re excited to share that AGSAA now has a research hub on Comend, a platform that helps organize and track scientific progress across all our Aicardi-Goutières Syndrome projects - from early-stage lab research to active clinical trials.

We’re actively building this platform to become a comprehensive, central space where researchers, biotechs, and families can view and track progress across all AGS research. Our goal is to use it to foster collaboration between partners, attract new researchers and biotechs, and serve as a unified resource for disease models, patient samples, and clinical data.

You can explore our live profile here: https://agsaa.comend.io/

This is another step toward making AGS research more transparent, connected, and actionable. 🩵

10/23/2025

We’re excited to share an update in our partnership with Citizen Health - a digital platform helping rare disease families unlock the power of their medical data.

Citizen has just launched the 𝗔𝗜 𝗔𝗱𝘃𝗼𝗰𝗮𝘁𝗲 - the first AI tool built by and for rare disease families!
It helps you:
⭐️Understand your child’s diagnosis
⭐️Decode complex medical records
⭐️Gain AGS-specfic insights from your own rare disease community
⭐️Summarize your child’s medical history to share with new providers, caregivers or at school
⭐️Appeal insurance denials

𝗪𝗵𝗮𝘁 𝗺𝗮𝗸𝗲𝘀 𝘁𝗵𝗶𝘀 𝗱𝗶𝗳𝗳𝗲𝗿𝗲𝗻𝘁 𝗳𝗿𝗼𝗺 𝘁𝗼𝗼𝗹𝘀 𝗹𝗶𝗸𝗲 𝗖𝗵𝗮𝘁𝗚𝗣𝗧 𝗼𝗿 𝗖𝗹𝗮𝘂𝗱𝗲?
Unlike general AI models that draw on broad internet data, the AI Advocate is grounded in your child’s real medical records and the collective insights from the AGS community’s data. It’s like turning the shared wisdom and lived experience from our Facebook group into something organized and searchable. That means its responses are deeply personalized, medically relevant, and informed by what families like ours actually experience.

👉 𝗛𝗼𝘄 𝘁𝗼 𝗷𝗼𝗶𝗻:
Sign up is simple — just click here: https://www.citizen.health/ai-advocate/agsaa
Citizen will contact your child’s providers or hospital to collect their records (or you can upload them directly if you’re outside the U.S.). It’s all free for AGS patient families.

As one of Citizen Health’s primary partner organizations, AGSAA is helping shape this platform specifically for our community. 𝗧𝗵𝗲 𝗺𝗼𝗿𝗲 𝗳𝗮𝗺𝗶𝗹𝗶𝗲𝘀 𝘄𝗲 𝗵𝗮𝘃𝗲 𝗲𝗻𝗿𝗼𝗹𝗹𝗲𝗱, 𝘁𝗵𝗲 𝘀𝘁𝗿𝗼𝗻𝗴𝗲𝗿 𝗼𝘂𝗿 𝗰𝗼𝗹𝗹𝗲𝗰𝘁𝗶𝘃𝗲 𝗱𝗮𝘁𝗮 𝘄𝗶𝗹𝗹 𝗯𝗲𝗰𝗼𝗺𝗲. This enables faster insights from our community, complementing existing research with real-world data from across the globe.

Let’s make our data work for us - for better care, deeper understanding, and faster progress toward treatments!

🔗 https://www.citizen.health/ai-advocate/agsaa - Your medical information stays private and secure within Citizen Health, and is never shared with third-party AI companies or used to train their algorithms!

09/26/2025

💙 AGSAA Needs Your Help 💙

We know caregiving takes time and energy, but AGSAA is powered by parents and advocates just like you. Right now, we’re looking for someone with experience in Squarespace who can spare just a few pro bono volunteer hours each month to help us update and maintain our website.

This can be temporary or ongoing help—we’re starting with one project.

We’ll move at your pace, understanding that everyone has different capacities.

Even a handful of hours can make a big difference.

If you or someone you know is able to help, please email us at [email protected].

Together, we can keep AGSAA strong and continue supporting families in our community.

Send a message to learn more

03/04/2025

📢 Measles Outbreak: What AGS Families Need to Know

🚨 Measles is spreading in the U.S. 🚨
The AGS community may be at higher risk. If your child isn’t fully vaccinated due to AGS or their treatment, extra precautions may be needed.

💉 Why This Matters
😷The MMR vaccine protects against measles, but some AGS treatments weaken the immune system, making vaccination unsafe.
😷Some AGS patients have been previously vaccinated but did not maintain sufficient levels of measles antibodies to maintain immunity.

⚠️ Who Is at Risk?
Children or adults with AGS may be unprotected if:
❌ They are on JAK inhibitors (like baricitinib or ruxolitinib) or interferon-blocking drugs (like anifrolumab)
❌ They haven’t received both MMR doses
❌ They have a weakened immune system and/or no retained antibodies from previous vaccinations

🩺 What Can You Do?
✔️ If your child had one or more MMR shots, ask your doctor to check measles antibody levels.
✔️ If your child isn’t fully vaccinated, let your doctor know immediately if they are exposed or if there’s an outbreak nearby.
✔️Talk to your medical team about the best protection plan
✔️Know the signs of measles: fever, cough, runny nose, rash
✔️Make sure your friends and family understand risks for someone with AGS, especially if they or their children are not vaccinated themselves

🩵You are never alone here
The AGSAA and wonderful AGS community of families are in this together with you. We know this can be a stressful and anxiety-inducing time and there is already a lot of uncertainty in the world right now. We recommend connecting with your local care team and augmenting with evidence-based and practical online sources to help guide you toward your best medical care options.

02/28/2025

This Friday 2/28 is Rare Disease Day, but living with AGS is a challenging reality our community of affected families face each and every day.

Early diagnosis can drastically change the trajectory of AGS. While identification has improved significantly in recent years, many infants, children, and even adults still go undiagnosed for far too long, which can lead to irreversible and catastrophic consequences. Equitable access to emerging treatments offers new hope for this previously untreatable disease, but access shouldn’t depend on geography, luck, privilege, or lack of information.

We believe that patient voices must be at the heart of research — because when clinical care teams and researchers listen to our lived experiences, they treat not just the disease but the whole person, and then support the entire family in the process. We are honored to help share/represent this perspective and so grateful to those partners around the world who are committed to listening and learning. We hope our collaboration will only continue to strengthen with each project and conversation.

Together, let’s keep pushing for
🩵 Greater awareness among healthcare providers for earlier and more accurate diagnosis
🩵 Equitable access to life-changing treatments for ALL patients
🩵 Research that prioritizes the patient experience to shape better clinical care and enhance disease understanding

It’s a long and hard road, but we are walking it with you. Every AGS family deserves a future filled with possibility and joy - and to be considered, supported, and understood the other 364 days of the year 🦓

Special thanks to our intern Kate Gilhooly for creating these informational images - Kate is a molecular biology major at UCLA interested in neurodegenerative and neurodevelopmental diseases, the gut-brain connection, and pediatrics. One area she has been focusing on during her time with AGSAA is creating educational materials for healthcare providers.

12/14/2024

Understanding genetics can feel overwhelming, especially when it’s tied to a rare condition like Aicardi Goutières Syndrome (AGS). In the Genetics Corner, we simplify complex scientific concepts to help families, caregivers, and patients better understand how AGS is inherited, and what this means for families. It’s a resource to empower you with knowledge and make sense of the genetic puzzle behind AGS.

buff.ly/3ZzcLW1

12/03/2024

🌟 This , Give Hope 🌟
Today, we come together to support causes that make a real difference. At AGSAA, our hope is that no family faces an AGS diagnosis alone.

It will take millions of dollars to understand, stabilize, and eventually cure Aicardi-Goutieres Syndrome. Your generosity makes it possible for us to help support the brilliant minds trying to figure out this incredibly complex disease, build bridges, advocate for our global community, and drive disease awareness.

Please consider helping us to create better programs, resources, and opportunities for all families living with or yet to be diagnosed with AGS.

Your Support Helps:
🔬 Fund groundbreaking research for better treatments and informed care
🫂 Provide resources and a lifeline for families navigating an AGS diagnosis
🩵 Build a global community of understanding

Your donation, no matter the size, can light the way for families and individuals living with AGS. Together, we can make an incredible impact.

Click the link in our bio to donate or share this post to spread the word. Thank you for giving hope, love, and strength this .