Documenting Experiences with COVID-19 in AGS

Live now, we’re requesting participants in our AGS Patient Registry to answer questions about their experiences with COVID-19 infection. Having relied on social media anecdotes in the past, our rare disease community can now systematically collect experiences and publish a quantifiable risk. This adds to our already launched survey to explore the safety of COVID-19 vaccinations. Combined, these two stories should help guide AGS families in navigating risk during the pandemic and what appears to be the coming endemic phase of SARS-CoV-2. We want to hear from everyone, regardless of whether they’ve been vaccinated or not or been infected with COVID-19 or not. Understanding and documenting vaccine hesitancy and infection rates with COVID-19 in AGS will be equally as important as documenting experiences. Both surveys will allow you to answer in the negative and complete quickly. Additionally, we will always have surveys available to help contextualize your answers along with your genotype, phenotype, and neurodevelopmental characteristics.

We’re learning a lot as we go, including how to organize our surveys, notifications and outreach. We appreciate everyone’s support and patience. Now that we are launching AGS specific surveys, we launched the The Aicardi-Goutieres Syndrome Registry study, For the Collection of Information to Facilitate and Advance Better Care and Research. If you registered and created account shortly after our symposium, upon login you should be directed to our study page with a button to “Join Study.” Previously we had guided you to create accounts and initially join Luna’s “Tell us About Yourself” study as a first step. Every survey we launch and all insights and analysis moving forward will occur within our Aicardi-Goutieres Syndrome Registry study.

Developing Therapies and the Importance of Patient and Family Reported Outcomes

This week we’ve come to an agreement with Dr. Joanne Kurtzberg (director of the Marcus Center for Cellular Cures and long time advocate for leukodystrophies) to begin planning and designing a trial to expand a potential cellular therapy for AGS. Some in our community may already be aware that one of Dr. Kurtzberg’s AGS patients has been the subject of a single patient Investigational New Drug (IND) for the use of cord blood derived Mesenchymal Stromal Cells as a downstream, anti-inflammatory therapy. Measuring biomarker and clinical improvements has been difficult in AGS, but the parent and provider reported experiences within this IND have been encouraging enough to pursue it further. The AGSAA will work with Dr. Kurtzberg and others this year to explore yet another opportunity!

In rare diseases, parents, families, and community members often have to take the initiative to explore opportunities for developing therapies. Sometimes we find ourselves in the right place at the right time, but the complexities of developing treatments and clinical trials can be daunting. In addition to deep fundraising, we’re often involved in the trial design and recruitment processes. The community’s input is critical to developing relevant outcomes and measures that could lead to a successful trial. As we explore new therapeutic options in Aicardi-Goutieres Syndrome, we keep returning to these difficulties. We at the AGSAA expect to be working closely this year with academia, industry, and our community to design the best possible clinical trials with the highest chance of success; and we need our families in the AGS Patient Registry to make it happen.

Request For Applications, AGSAA Young Investigator Grant

Let’s Do Science Together

On Rare Disease Day, the AGS community raised funds to offer a research grant to a young investigator (/news/2022/2/28/rare-disease-day-rare-researcher-fundraiser). Today we announce the grant details and request applications. The AGSAA will support your work with our tools and network, and you’ll have a direct line to this rare disease community. What could be more meaningful than direct application and impact?

Industry Partners, Promising Developments!

On Friday, Terry Fang, Director of the Genetic and Neurodevelopmental Disorders group at Biogen, gave the AGSAA an update on work they have done over the last few years to bring a potential new therapy to Aicardi-Goutieres Syndrome. The AGSAA’s research committee (Megan Veuleman, Juan Fran Navarro, Patrick Winters, and Devon Cordova) listened intently to some really compelling data and evidence. We’re all in agreement to bring this update to the community soon in the form of a webinar, and we’ll work to include an explanation from Biogen of why participation in the AGS Patient Registry will be critical to developing a successful clinical trial.

Patient Registry - Safety of COVID Vaccination in AGS Investigation

This morning we are launching our first patient registry AGS specific surveys. Technically, this is also the launch of our AGS specific patient registry study. All of our previous enrollment and registry activity has been about creating accounts, familiarizing ourselves with the Luna platform, and collecting basic demographic information. This morning, we’re starting our investigation into the safety of COVID-19 vaccination in AGS (Read More), and in the coming days we will include an investigation into the severity of COVID-19 in AGS individuals.

In order to collect information that could help us investigate the safety of COVID-19 vaccines, we’ve prepared two additional surveys to help us contextualize the results, including questions about immunosuppressive treatment and AGS severity and genotype. You may recognize our “phenotyping” survey as Dr. Laura Adang’s AGS Scale. Altogether, it should take no longer than 5 minutes.

The Aicardi-Goutieres Syndrome Registry

For the Collection of Information to Facilitate and Advance Better Care and Research.

Now that we’ve received approval from Genetic Alliance to launch, our AGS community can participate in the AGS registry study. Our surveys and data collection requests will roll out within this study. Even if you have created accounts in Luna, you may be asked to enroll and consent to this study managed by the AGSAA.