Leukodystrophy Awareness Month, Meet Aicardi-Goutieres Syndrome (AGS)

In honor of Leukodystrophy Awareness Month we’re going to spend September highlighting families affected by Aicardi-Goutieres Syndrome from around the world. Watch our social media channels (Instagram, Facebook, and Twitter) for regular posts introducing another child, another family, another story. We’re diverse but united in our common goal to rescue potential and improve access and affordability of treatment. Share our stories this month to help raise awareness and achieve our goal of becoming one of the 5% of rare diseases with a fully approved treatment.

If you’re an AGS family that would like to be included in this month’s highlights, contact us on social media, by phone, or email (https://agsaa.org/contact).

An Open Letter to AGS Physicians

PO Box 2821 
Crested Butte, CO 81224 
+1 917 960 8733
https://agsaa.org/
info@agsaa.org

Esteemed Provider,

The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) would like to ensure that you’re aware of recent developments in the treatment of Aicardi-Goutieres Syndrome (AGS). We understand that familiarity with our rare disorder comes at a premium, and it’s likely that you will benefit from resources and references we can provide to improve the care of your patient. Most importantly, we’ve accumulated an explanation, testimonials, and references to aid parents and physicians in treating AGS with JAK inhibitors. Many children and adults affected by AGS have had their disease managed effectively by treatment with baricitinib, ruxolitinib or (to a lesser extent) tofacitinib, all of which are immune modulating agents. These medicines are approved in most countries and have been used safely with AGS patients around the world to reduce overt symptoms, improve sleep and comfort, and maintain a neurologic stability that has allowed most to achieve new developmental milestones. JAK inhibitors remain our only safe and proven therapeutic, and our physician partners have published protocols for dosing and safety monitoring.

• JAK Inhibition (with references to treatment protocol) - https://agsaa.org/jak-inhibition

• EULAR/ACR Recommendations - https://agsaa.org/clinical-care-recommendations

Additionally, we feel it’s important to make you aware of a few key points.

• AGS is a treatable disorder that should not be considered hopeless nor primarily progressive. It is a relapsing/remitting disease that can be successfully treated and managed. Many treated with JAK inhibitors achieve astonishing outcomes.

• AGS is an immune disorder, exacerbated by immune stimulation and associated with hematologic dysfunction.

• AGS is a heterogeneous disorder. For reasons unknown, AGS may present with a high degree of variability, including within the same family. Secondary genetic factors and/or environmental factors may play a large role in determining the age of onset, degree of disability, and phenotype. AGS is difficult to define and encompasses much.

• AGS is a multisystem inflammatory disorder. Many systems and organs may be affected by chronic inflammation and therefore may also be treated with JAK inhibitors. Patients should be regularly monitored with a comprehensive metabolic panel, and disturbances in many systems (e.g. renal, hepatic, gastrointestinal) should be investigated in the context of AGS as an autoinflammatory disorder.

Thank you for seeking the best care and future for your patient. Our organization works closely with leading AGS researchers and physicians and will continue to provide updated information and guidance. Help us help you rescue the potential of all patients living with AGS by staying in contact and proactively seeking consultation.

Sincerely,
Aicardi Goutieres Syndrome Advocacy Association
info@agsaa.org

With Gratitude, In Memory of Geoffrey J. McHale

An AGS family recently lost their beloved grandfather, Geoffrey McHale. Geoffrey was grandfather to Alec Jump, one of our all-star AGS kiddos. In lieu of gifts and flowers, Mr. McHale generously requested charitable donations be made to the AGSAA. We would like to thank Geoffrey McHale, his generous family, and everyone donating on Mr. McHale’s behalf. Your generosity enables our community to keep organizing and growing to meet the significant challenges we face as families living with AGS.

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Geoff grew up in Garfield Heights, OH and served as an altar boy at St. Monica’s Catholic Church. As a teen, he was thrilled to be selected as a Cleveland Indians batboy. He graduated from St. Peter Chanel High School and earned his bachelor’s degree from John Carroll University in Ohio. Geoff proudly served for 6 years in the United States Army. He was awarded the Vietnam Service Medal, and the National Defense Service Medal, and was honorably discharged from the U.S. Army Reserves as a Captain. Geoff enjoyed a successful career as a marketing and retail services executive, including over 15 years at IRI, Inc. For many years, he served as both an Indian Guide and Cub Scout Leader. Geoff was a longtime active parishioner of St. Raphael Catholic Church in Naperville. Geoff volunteered at Edward Hospital for over 10 years in patient advocacy, including support of Veterans.

Geoff and [wife] Dee loved to travel to Cabo, in addition to their annual trip to Saugatuck, MI with his family. Their favorite nights together were spent going to the theatre enjoying Broadway shows. However, his favorite activity, was spent with his children and grandchildren, watching their sports or being a part of their activities.

Geoffrey J. McHale. July 25, 1946 - July 21, 2022

Our Bittersweet Story of an Effective Treatment Just Out of Reach

There is no cure for AGS.

There is no time machine to go back and repair the havoc it causes once triggered. But, there IS a treatment option available right now that buys us valuable time by halting the aggressive inflammatory response that causes brain, nervous system, and organ damage.

The AGSAA, AGS experts, and AGS families overwhelmingly recommend the use of a class of drugs called “JAK inhibitors” to ameliorate the consequences of AGS disease activity. A global task force of specialists with the ACR, EULAR, NIH, CHOP, GLIA and more officially determined these drugs to be beneficial.

The most widely used and studied JAK inhibitor for AGS, baricitinib (brand name Olumiant, created by big pharma co Lilly ) was repurposed to treat AGS and other related conditions. This is called “off-label” use, a highly common practice in healthcare but can cause frustrating issues with insurance, pharmacies, and doctors when the U.S. Food and Drug Administration (FDA) hasn’t given their stamp of approval. AGS was put forth for this designation in February 2020, but was not approved for reasons unknown, and has been in limbo since. While we are not permitted to advocate for a specific drug directly with the FDA, we are working on other ways to get Aicardi-Goutieres Syndrome on their radar so they fully understand our patient experience, burden of care, and why we need equitable, timely, and affordable access to the ONLY treatment option available.

If we had Alopecia, COVID-19, or Rheumatoid Arthritis we would be able to get this prescription easily, often with Lilly subsidizing it through their Lilly Cares cost assistance program which all AGS patients are excluded from. Beyond that, AGS family access is further determined by location, competence and commitment of their prescribing doctor, insurance type, income, and other factors that should never matter when it comes to keeping your child alive and well.

Help us tell this important story to Lilly to remind them of our desire to collaborate and to the media so families get the access and support they need.

Sign our petition today and join 2,300+ supporters so far!

For media inquiries: see our Media Resources and use our contact form or email info@agsaa.org.

Eli Lilly, Advance Mission to Support Debilitating Brain Disease With Proven Medication

Eli Lilly & Co, treatment with your JAK inhibitor baricitinib has proven to be a life saving and altering treatment for children and adults living with the debilitating neuroinflammatory brain disease Aicardi-Goutieres Syndrome (AGS). For reasons unknown, our community has waited without update for you to continue advocating for approval with the FDA. In the interim, AGS families around the world have struggled with cost and access issues despite compelling testimonials, published evidence of safety and efficacy, and the support and advocacy of the American College of Rheumatology (ACR) and European Alliance of Associations for Rheumatology (EULAR).

Advance your mission.

Engage in dialogue and partner with the community and patient advocacy group, the AGSAA.

Provide cost assistance to AGS families.

Advocate for approval with the FDA.

Read more at agsaa.org/jak-inhibition.

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AGS Families and Supporters, join us and advocate for better access to baricitinib. Share your testimonials and sign our petition. Be heard!

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.

Introducing AGSAA Grant Awardee, Dr. Barney Viengkhou

Dr. Barney Viengkhou is a postdoctoral fellow and PhD graduate whose research involves studying the cellular mechanisms involved in interferon-alpha mediated brain diseases. During his PhD, he has identified that endothelial cells are driving pathophysiology in mice with chronic overproduction of interferon-alpha in the brain, which forms the basis of his application.

Dr. Barney Viengkhou discusses his work with AGS.

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Are the changes to brain vasculature in Aicardi-Goutières syndrome mirrored in mice with chronic interferon-alpha production in the brain?

PI: Barney Viengkhou

ABSTRACT/SUMMARY OF PROJECT

The genetic basis of Aicardi-Goutières syndrome (AGS) involves several genes. Although several animal models replicate these genetic changes, they all have largely failed to mirror the symptomology and neuropathology observed in patients. Despite the number of genes associated with AGS, a common feature in patients is the presence of chronically elevated interferon- in the brain. Importantly, transgenic mice that chronically overproduce interferon- in the brain mirror the disease and brain pathology observed in patients with AGS. We previously identified that the brain vasculature is primarily mediating the pathology in the transgenic mice. This project will translate the mouse findings to the human disease by characterizing and investigating the morphological and molecular changes in the brain vasculature. Currently, there is no cure for AGS and treatments largely manage symptoms. Hence, demonstrating that the blood vessels of the brain are similarly affected in mice and humans is critical for understanding the cellular mechanisms of disease but also enables these mice to be utilized to develop and test new treatment strategies for AGS.

Driving Newborn Screening To The Next Stage

The AGSAA is launching a drive to collect leftover Newborn Screening (NBS) cards to advance an AGS newborn screening test! When infants are born, doctors collect and dry a few drops of blood on a paper card, to be screened for treatable disorders. It takes years for a disorder’s test to make it to primetime, as it goes through extensive lab development and validation, a pilot program, and extensive review before inclusion in official recommendations. The AGSAA along with our partners at CHOP aim to collect enough samples by the end of the year to validate a test in development. Help us collect 50 new cards by year’s end!

Here’s how you can help:

• If you’re in the USA, lookup your state’s NBS card retention policy at Baby's First Test to see if your child’s NBS card is available in storage.

• Contact the AGSAA at info@agsaa.org whether your child’s NBS card is still available or you’re unsure. Include your child’s name, date of birth, and birthplace; and our team do all the work and prepare the forms for you.

• Lastly, sign the forms and consent to CHOP collecting the card!

A Helping Hand When You Need it Most

The AGSAA has prioritized direct and meaningful support to families affected by AIcardi Goutieres Syndrome. We’d like to remind our families of a program we began at the end of 2021 to give you a lift during difficult times. Many of us understand the challenges associated with a break in routine, how a an unexpected illness or hospitalization takes a toll that extends beyond the initial event. Simply put, we’re stretched thin and could use a helping hand when these circumstances arise. The AGSAA wants to be there for you. Using funds raised by our community of allies, we’ll send you a gift card for a meal delivery service.

To date, we’ve delivered meal cards at a total of $1,300 USD. But we have more cards to send! You can help support us, this program, and your AGS friends by letting us know at support@agsaa.org when you see a family experiencing any kind of hardship.