Biogen Survey Re-Opened until 12/31!!! Use Your Voice Now to Impact Clinical Trial Design in 2024!

Update: Our patient registry project with Biogen has been completed as of January 2024 and we are now pivoting to our AGSAA Contact Registry and a partnership with Ciitizen to create an AGS Natural History Study by using patient medical records to unlock key insights and data for research and treatment opportunities - both launching April/May 2024.

AGS Families,

We’ve had a LOT going on this year end but wanted to quickly share some great and time-sensitive news - Biogen & AGSAA have just re-opened a unique opportunity for you to make a meaningful and direct impact on the development of an upcoming AGS clinical trial!

We want to continue to collect as much community driven insight and data as possible in advance of key planning meetings taking place in January. If you haven’t already shared your perspective, please take less than 30 minutes to participate in the patient registry study sponsored by Biogen aimed at understanding AGS better and improving the clinical trial development process!

💡 Why Participate?

Make a Difference: Your valuable insights will contribute to advancing a Biogen clinical trial in AGS and potentially lead to a more effective and convenient clinical trial.

$50 Amazon Gift Card: As a token of appreciation for your time, Biogen is offering a $50 Amazon gift card to everyone who completes the survey.

30 Minutes Well Spent: The survey will only take about 30 minutes of your time, but the impact it can have on AGS research is immeasurable!

👉 How to Participate:

1. Click on the survey button below to get started.

2. Complete the survey with your honest responses.

3. NEW: For security purposes, you will also be asked to briefly record a few responses so we know for sure that you are bringing your own AGS impacted life experiences to this survey.

4. Share this announcement with other AGS families to maximize our collective impact.

🌐 Learn More:

To delve deeper into the world of AGS research and clinical trial development, consider these resources:

• AGS Patient Registry: Stay connected with the AGS community and access valuable information. Link to AGS Patient Registry.

• Biogen Webinar: Discover more about Biogen's commitment to AGS research in our first webinar and learn why this is all so important. Link to the Webinar.

Let's unite as a community and contribute to a brighter future for those with AGS. Your involvement is significant, and together, we can make a real difference.

Thank you for being the incredible AGS advocates that you are. Let's spread the word and make AGS history together!

Contribute to AGS Clinical Trial Development: Join the Biogen Study

Update: Our patient registry project with Biogen has been completed as of January 2024 and we are now pivoting to our AGSAA Contact Registry and a partnership with Ciitizen to create an AGS Natural History Study by using patient medical records to unlock key insights and data for research and treatment opportunities - both launching April/May 2024.

Update: in light of an astonishing response, we’ve paused the Biogen patient registry study. See our update.

AGS Families,

We have an opportunity for you to make a meaningful impact on the development of an AGS clinical trial. We'd like to invite you to participate in a patient registry study sponsored by Biogen aimed at understanding AGS better and improving the clinical trial development process.

💡 Why Participate?

Make a Difference: Your valuable insights will contribute to advancing a Biogen clinical trial in AGS and potentially lead to a more effective and convenient clinical trial.

$50 Amazon Gift Card: As a token of appreciation for your time, Biogen is offering a $50 Amazon gift card to everyone who completes the survey.

30 Minutes Well Spent: The survey will only take about 30 minutes of your time, but the impact it can have on AGS research is immeasurable!

👉 How to Participate:

1. Click on the survey link below to get started:

2. Complete the survey with your honest responses.

3. Share this information with other AGS families to maximize our collective impact.

🌐 Learn More:

To delve deeper into the world of AGS research and clinical trial development, consider these resources:

• AGS Patient Registry: Stay connected with the AGS community and access valuable information. Link to AGS Patient Registry.

• Biogen Webinar: Discover more about Biogen's commitment to AGS research in our first webinar. Link to the Webinar.

Let's unite as a community and contribute to a brighter future for those with AGS. Your involvement is significant, and together, we can make a real difference.

Thank you for being the incredible AGS advocates that you are. Let's spread the word and make AGS history together!

Webinar: Biogen, Clinical Trials, and the AGSAA Patient Registry

The AGS Advocacy Association (AGSAA) has been working with the pharmaceutical company Biogen (biogen.com) to ensure the development an effective clinical trial for Aicardi-Goutieres Syndrome (AGS). We’re excited to share some details about this collaboration in our first webinar, and we have an earnest request for all AGS families. Please watch our webinar in which we explain the state of Biogen’s program for AGS and how a new AGS patient registry study and survey can help Biogen develop a forthcoming clinical trial.

Patrick Winters (Research Director, AGS Advocacy Association), Dr. Jonathan Santoro (Medical Director of the Neuroimmunology and Demyelinating Disorders Program at Children’s Hospital Los Angeles), and Dr. Jessica Shoaff (Associate Director, Epidemiology at Biogen) discuss how patient registries contribute to effective clinical trials and how the Biogen patient registry study fits in the development of a Biogen clinical trial for AGS.

A study managed by the pharmaceutical company Biogen to inform and improve the development of a clinical trial for Aicardi-Goutieres Syndrome. Your survey responses in this study will be anonymized and shared with Biogen.

Presentation Slides

Tells Us Your JAK Inhibition Story

The Aicardi Goutieres Syndrome Advocacy Association is collecting testimonials, interviews, and data to capture and present our community’s difficulty accessing our only treatment. We want to share your story properly with the people in the best position to improve the situation. Our previous campaign was a success, and on November 17th we’ll be meeting with representatives from Eli Lilly, the manufacturer of the JAK inhibitor baricitinib. We’ve provided a number of easy ways for you to exercise your voice. We’ll make sure you get heard. Click the button below to learn more about how you can join the effort.

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome

Participants of the AGS Patient Registry contributed directly to this recent publication in Molecular Genetics and Metabolism finding COVID-19 vaccination to be generally safe in the AGS population. Two big 👏 👏 for everyone in the AGS community that contributed their experiences.

"These findings suggest that COVID vaccination using nucleoside-modified forms of mRNA vaccines are unlikely to directly stimulate ISG expression in response to mRNA internalization in AGS tissues. With continued community spread, we recommend vaccination using nucleoside-modified mRNA vaccines in this rare disease group in individuals for whom vaccines were previously well tolerated." https://doi.org/10.1016/j.ymgme.2022.10.001

Patient Registry Participant Breakdown, August 2022

We’ve seen some steady growth in registry enrollment since May, with new participants joining from all around the world. We now have an IRB approved protocol and study with the flexibility to explore topics that have been validated as important and meaningful to AGS families. As such, we’ll be reporting our numbers a bit differently, indicating the number of participants within our Luna community and the number of participants that have consented to our registry study/protocol. In the future we may introduce very narrowly scoped and specific studies for collaborating with scientists, and everyone within the community will be given the choice of whether to join irrespective of their participation in our registry study.

If you find it confusing… so do we! We at the AGSAA continue to learn and practice administration of surveys and analysis. We’re learning from others as we go and planning some interesting ways to engage our community. Stay tuned for more community led exploration and opportunities for families to own questions and answers.

AGS Patient Registry Virtual Walkthrough, Enrolling and Participating

Join the AGSAA’s Research Director Patrick Winters for a hands-on virtual walkthrough of the AGS Patient Registry.

We'll be holding 3 online meetings to accommodate different time zones around the globe on Saturday, August 6th. Patrick will host to help you enroll and participate in the registry or to answer questions like "why is this important?" and "how do you protect my privacy?" See the available times and meeting details on our AGSAA FB events page.

In advance of the virtual event, please watch our walkthrough video. Translated subtitles provided.

AGS Patient Registry Introduction and Perspective

An introduction to the AGS patient Registry (https://agsaa.org/ags-patient-registry) by the AGSAA's Research Director, Patrick Winters.

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Transcription:

Hi, everyone. I wanted to introduce myself and take a moment to give you some perspective on the AGS patient registry managed by the Aicardi Goutieres Syndrome Advocacy Association (the AGSAA). My name is Patrick, and I've taken on the responsibility of research director at the AGSAA. I'm a father of three children, the youngest of which has been impacted significantly by AGS. From the very beginning of this journey, I've dedicated myself to understanding this disease and working towards solutions to improve my daughter's care. I've recently taken the lead in communications and collaborations with scientists and clinicians working on AGS. And, one of the most important and compelling things we can offer potential collaborators is coordinated access to patients, data, samples, et cetera. This registry represents and reflects our rare disease community's level of organization. A scientist looking to research a disorder or a drug company evaluating the cost of pursuing treatments for a disease will consider this in their decisions. Over the next year I've volunteered to serve as co-chair for the Global Leukodystrophy Initiative's Coalition of Patient Advocacy Groups. In my involvement with GLIA, the National Institute of Health in the U.S. , and the Rare Disease Clinical Research Network, I'll be working to help other rare disease groups prepare themselves for clinical trials by establishing registries, just like ours.

The establishment of a patient registry is the number one recommendation made by these institutions. It's the most important thing advocacy groups can do to prepare for the development of future clinical trials. Since we launched the registry, we've tried to focus surveys on data and topics that would allow us to provide useful information to families quickly and directly. By doing so, we've hoped to build a group of engaged and active participants, a necessary precursor to attracting scientists for more in depth research.

Still, I believe there's compelling work and novel insights that we can publish directly. For example, our triggers and flare survey, which is open now, will allow us to publish a full and detailed characterization of AGS disease flares. And, this is something that isn't currently written about nor well understood by families or their doctors. I'd also like to comment on data and access and visibility. None of us. And I mean it, none of us have the ability to view your name, email address, or any other personally identifiable information. Luna, the software service we use, ensures that our registry remains anonymous to us and to every collaborator that we may invite to analyze the data. All of this puts our registry above board, making it compelling to a researcher that would be able to include registry information directly in their publications.

Our registry is official in that sense, it's considered reliable; and with it we're going to advance understanding and care for AGS. So we invite all families around the world to participate. Although we acknowledge that there will be some friction and shortcomings at times, we are still dedicated to making this an inclusive and comprehensive tool for our community.

I encourage and implore you to participate.

Documenting and Characterizing AGS Triggers and their Consequences

After a bit of a delay to provide translations in multiple languages, we’re finally launching a patient registry survey to systematically document the AGS community’s experiences with what we refer to as “triggers” and “flares”. AGS is often described in outdated literature as involving a single but severe neurological regression. However, the patient community knows well that many with AGS suffer recurring periods of heightened disease activity. Unsurprisingly, these periods (or “flares”) appear to be the result of immune stimulating factors (or “triggers”); but the characteristics and severity of these flares and triggers have been mostly passed around as community anecdotes. By systematically collecting this information through our registry, we will achieve two primary goals:

• Characterize disease related stimulus and risk factors for AGS families.

• Identify distinct phenotypes, perhaps related to genotype, AGS Scale score, or frequency + severity of relapse.

With this new survey and previously collected data, we hope to begin to answer everyone’s first question, “what will happen to my child?” While this will be our longest survey to date, we hope that you’ll see the benefit that all of this information will provide to you and others.

Modeling Areas of Concern for AGS Families, Stage 2

We’ve completed the first stage of the Community Driven Innovation (CDI) process with Luna. The AGSAA has a list of topics ranked in order of importance to AGS individuals and their families that will help guide our future surveys and investigations. Additionally, our IRB and study protocol allows us to move forward with surveys on these topics without the red tape of protocol amendments (our AGS Retrospective Triggers and Flares survey is our first example). Now that we’ve reached statistical significance with our responses to this initial ranking, we’re moving on to stage 2, an effort to build a mental model of these concerns. We’re asking AGS individuals and families to organize the list of topics into groups in whichever way makes sense to them. With this type of activity, we’ll not only have an understanding of what topics relate to each other; but we hope to identify distinct ways that families think of AGS. With a disease as heterogeneous as AGS and with adults and children living with varying medical concerns and degrees of disability, we expect to see multiple, distinct models emerge from the results. While we might intuitively expect this and assume the differences to be related to disease severity, we really have no idea! By completing this latest survey activity, we’ll not only know what topics are important overall, but we’ll know who they are important to (by age, genotype, etc.).

Please note that this survey will be conducted in optimalworkshop.com (outside of our patient registry at lunadna.com). The responses are being collected by the AGSAA and Luna but we require additional software to complete the grouping activity that is unavailable in LunaDNA at the moment.

The list of AGS concerns/topics in ranked order of importance to patient registry participants:

• Muscle tone management

• Flare-ups (triggers, mitigation, frequency)

• Availability of Treatments

• Other Illness impacts (colds, UTI’s)

• Therapies (PT, speech, nutrition)

• White matter (degradation, improvements)

• Dysautonomia

• Education Support (IEP, accessibility devices)

• Interferons (levels, control)

• JAK inhibitors (Baracitinib and related)

• Mobility (issues, progression)

• Atypical presentation(s) of AGS

• Immune support

• Mutation Specific Information

• Newborn screening

• Proactive intervention vs reactive

• Assistive technology

• Brain-body connection

• Communication

• Nutrition

• Pain management

• Patterns in condition (weeks, months, years)

• Physical Developmental delays or regression

• Prognosis (months, years)

• Socialization and friends

COVID-19 Vaccine Guidance

NOTE: This manuscript was accepted and published in Molecular Genetics and Metabolism on October 10th. See SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.

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Yesterday, our clinical collaborators at the Children’s Hospital of Philadelphia uploaded a pre-print of an article we contributed to about COVID-19 vaccines and their safety within AGS. Please note that pre-prints have not been formally peer-reviewed and should not guide health-related behavior or be reported in the press as conclusive. However, the conclusions of the authors remain; and we wanted to get this to our community as quickly as possible.

Based on experiments using blood samples from AGS patients, the authors have determined that the currently approved COVID-19 vaccines should not stimulate AGS disease activity more than other vaccine technologies. They’ve included our findings from our patient registry that suggest COVID-19 vaccination is safer than the risk involved with a live infection.

In the context of continued COVID-19 infections in the community, however, we are cautiously recommending that AGS affected individuals consider being vaccinated with one of the United States Food and Drug Administration approved mRNA vaccines, as applicable for their ages in the general population, unless individuals have documented vaccine related adverse events.

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mRNA-based vaccines against SARS-CoV-2 do not stimulate interferon stimulatory gene expression in individuals affected by Aicardi Goutières Syndrome.

Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman, Francesco Gavazzi, Laura Adang, Russell D'Aiello, Patrick Winters, Devon Cordova, Taibeen Khandaker, Houping Ni, Ying Tam, Paulo Lin, Drew Weissman, Justine Shults, Adeline Vanderver

bioRxiv 2022.05.18.492546; doi: https://doi.org/10.1101/2022.05.18.492546

Patient Registry Breakdown, May 2022

Are you represented in the AGS patient registry? If you’re outside of the United States, chances are that you’re not. We encourage everyone to participate, but we recognize that the language barrier may make it difficult. Our registry software has translation limitations that we will continue to work on. Still, we have lots of missing data for those of you that have participated. Please try to complete all of the surveys so that we can better characterize the community. We’ve begun writing a survey to explore triggers and flares, and we will need much of this basic demographic data complete to interpret the results.

We have 112 members that have created accounts and joined our AGSAA Community in Luna. Of that group, 41 have joined our registry study and completed at least one survey. By far, we have had the highest engagement in our COVID-19 investigations. We’ve submitted data and experiences from our registry to publish alongside lab experiments done by the Children’s Hospital of Philadelphia to investigate the safety of COVID-19 vaccination in AGS. We’ll share as soon as it’s published or we have an open pre-print available!

About half of our active participants still have some basic surveys to complete, so we lack data about their country of residence, age group, genotype, and medication/therapy status. We request that everyone get these out of the way because they allow us to characterize participants and take a deeper look at how certain details affect their experiences (e.g. whether genotype affects safety of COVID-19 vaccination). Nonetheless, we have participants in multiple countries, all age groups, and with most AGS genotypes.

We’ve also computed scores for participants using the AGS Scale (doi: 10.1016/j.ymgme.2022.03.010). This quick survey developed by the Children’s Hospital of Philadelphia characterizes the neurological severity of AGS in individuals. So far, we see that our registry represents the spectrum of AGS pretty well. We want to avoid bias in our registry and insights, so please help us by completing this survey to ensure that we consider everyone!

Modeling Areas of Concern for AGS Families

Following up on our efforts to model the AGS community’s most important concerns (AGS Community Driven Innovation and the Patient Registry), we’ve launched a survey that requests all members of our patient registry to select their top 5 topics from a long list developed through interviews with AGS families.

The AGSAA has been working with Luna and a number of AGS families to develop a model of the community's top concerns and topics. We started this project in February, and you can learn a little more on our blog (https://agsaa.org/news/2022/2/27/ags-community-driven-innovation).

Luna has developed a long list of concepts that continually surfaced in interviews with AGS families. Now we need the larger community to each select their top 5. Your feedback will help the AGSAA understand the community's needs better, and our institutional review board will allow us to explore these top concerns more quickly with our patient registry. The aim of this survey is to quickly surface trends, so please take less than a couple minutes. Select/drag any topic that jumps out at you, and don't worry or agonize about getting it right.

Here’s an example of what it looks like. A single question that should only take a few moments. Head over to the AGS Patient Registry to participate

Early Data About COVID-19 Experiences (Infection and Vaccination)

We continue to see and moderate community questions about experiences with COVID-19 in individuals with AGS, so we wanted to offer a preliminary view of the data. In the coming weeks, we’ll have a data scientist volunteering with us to examine the responses in greater depth. We’d like to characterize the experiences and provide a better description of the age, condition, and medications of the individuals represented in this study. All we can offer right now is a high level count of the number of individuals in our registry that have been vaccinated against or infected with COVID-19, but we’ll provide more detail about their overall health and characteristics soon.

A chart listing answers to high level questions about COVID-19 infection and vaccination. Click the image to see a larger chart.

It’s too early for us to draw conclusions, but the surveys suggest that COVID-19 vaccination in individuals with AGS might be safe. To our surprise, we find that COVID-19 may have contributed to an overall worsening of some people’s health, many weeks after infection. It’s important to remember that these are unverified patient reports, but we have been previously unaware of anecdotes that some with AGS may suffer “long-COVID.”

A breakdown of symptoms experienced by AGS individuals that have experienced COVID-19.

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.

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.

AGS Community Driven Innovation and the Patient Registry

An important and critical part of our Patient Registry Project’s success will involve Luna’s Community Driven Innovation program (CDI). We’ve already begun interviewing families to gather perspectives about the topics and issues most important to AGS families. With models produced by CDI, the AGSAA will be given approval by the Genetic Alliance Institutional Review Board (IRB) to move more quickly with surveys and questions for topics that will be considered to be of validated importance to AGS. With interviews in-progress, we expect to be able to share models in March!