Nonverbal Cognitive Skills in Children With AGS

Evaluating Cognitive and Adaptive Skills in AGS: Insights Beyond Motor Impairments

Many AGS children have normal nonverbal IQ

You've been saying it for years, and now we have proof. Even though children with Aicardi-Goutières Syndrome (AGS) have serious problems with movement and speaking, many score normally on intelligence tests that don't require talking. This shows that nonverbal cognitive skills in children with AGS are often strong, highlighting their true potential.

Understanding Cognitive Abilities in Children with AGS

To understand the thinking and learning abilities of 57 children with AGS, a study used tests that measure cognitive skills without relying on speech or movement. Scores were compared with the severity of a child’s condition and with how parents view their children's skills and adaptive behavior.

AGS Severity and Cognitive Skills

Overall, tests showed that motor skills were the most affected, while communication, daily living, and social skills were less impacted in children with AGS. The severity of AGS was strongly linked to scores for thinking and everyday abilities.

Intelligence Despite Severe Motor Impairments

Some children with AGS scored within the normal IQ range despite severe physical disability. "Within each gross motor and fine motor category of the AGS Scale, a subset of children scored within normal IQ range." This suggests that cognitive abilities can vary widely among children with similar motor impairments.

Parental Assessment and Performance Measures

The study also demonstrated that parents' evaluations of their children's abilities matched the actual test results. This correlation shows that parents' views align closely with professional assessments of how well their children perform in various tasks.

Enhancing Understanding with Better Assessment Tools

The VABS-3 and Leiter-3 provide deeper insights into children with AGS, beyond just their motor skills. This helps us understand their abilities better, design effective support, and plan clinical trials. By doing so, children can achieve their full potential in communication, education, and daily life, paving the way for a brighter future.

Key Takeaways

• Presume Competence: Always believe in the abilities of children with AGS. They can often understand and learn more than it might seem at first.

• Personalize Support: Using these assessment tools, clinicians and educators can create tailored support plans that focus on each child's strengths.

• Encourage and Celebrate: Recognize and celebrate every achievement, no matter how small. Positive reinforcement can boost confidence and motivation.

• Stay Positive: A positive outlook can help families and support teams encourage children to reach their full potential.

Gavazzi, Francesco et al. “Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.” Neurology vol. 103,1 (2024): e209541. doi:10.1212/WNL.0000000000209541

AGSAA Launches Our New Contact Registry

As you may have seen on our social media posts earlier this spring, we are launching an AGSAA Contact Registry in order to:

• Stay better connected with the AGS community.

• Take a proper census to raise awareness about AGS families around the world.

• Help families access valuable information including updates related to AGS, projects and opportunities, clinical trials, resources, event invitations, and more.

Ever wondered how many people in the world are living with AGS? Or with your AGS type? Or which countries our community spans? This is how we start to answer these questions and deepen connections. Make your family count by taking a few quick minutes to join the registry today and stay in the know as we continue on this journey together. This is how we - as AGS affected individuals, parents, allies, and advocates - can help to accelerate research and raise awareness while the disease-specific literature takes years to accurately reflect what we are all living through now.

The contact registry will help us spark and support progress by being as organized as possible. Here are some exciting opportunities and projects on the horizon and why we need to use this tool to help show the world that our community is Always Growing Stronger, Together:

• 1-2 upcoming clinical trials in development which will need patient education, recruitment, and enrollment support from AGSAA and input from our global community to make the experience as equitable, inclusive, and as patient-centered as possible.

• Key research updates set to be published by CHOP in the next 6+ months which will help to validate our experiences in a new light and bring forth additional opportunities for advocacy.

• Multiple upcoming opportunities to collaborate with partners, including

  • a global qualitative study to spotlight hurdles faced by AGS families

  • prep for an FDA patient listening session

  • additional advocacy for JAKI access

  • and more!

RNA-targeted Therapy Offers Breakthrough in Aicardi-Goutières Syndrome

Researchers from the University of Sydney have announced a breakthrough in the treatment of Aicardi-Goutières Syndrome (AGS). Published in The Journal of Clinical Investigation, their study introduces a promising RNA-targeted therapy that effectively halts the progression of AGS in mice. The therapy targets the interferon alpha receptor using antisense oligonucleotides, reducing neuroinflammation and neuronal damage while restoring the integrity of the blood-brain barrier. The findings offer hope for potential reversal of AGS's detrimental effects and lay the groundwork for future human trials.

The study represents a significant advancement in AGS research and treatment. Lead author Dr. Barney Viengkhou and Research Director Patrick Winters of the Aicardi-Goutières Syndrome Advocacy Association express enthusiasm for the therapy's potential to alleviate the burden on affected families. Conducted in collaboration with Ionis Pharmaceuticals and Biogen, the research not only promises to transform the lives of children with AGS but also offers hope for therapy development in other childhood dementias, highlighting the urgent need for innovative treatments and support for affected families.

Read the press release from the University of Sydney:
New therapy shows promise for a rare childhood dementia. 18 April 2024

Read the paper from the Journal of Clinical Investigation:
Viengkhou, Barney et al. “Interferon-α receptor antisense oligonucleotides reduce neuroinflammation and neuropathology in a mouse model of cerebral interferonopathy.” The Journal of clinical investigation vol. 134,4 e169562. 9 Jan. 2024, doi:10.1172/JCI169562

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!

AGS Community Exceeds Expectations: Pausing the Biogen Patient Registry 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.

Dear AGS Community,

We are absolutely thrilled to share some electrifying news with all of you today – the Biogen Patient Registry Study has exceeded our wildest expectations! Our community has rallied together, and we've already collected so many responses!

This remarkable response is a resounding statement. It's proof that our AGS community is far larger and more organized than many previously believed. It's a dynamic testament to our shared commitment to pushing the boundaries of AGS research and advocating for the betterment of all affected by this condition.

As we pause the study to analyze this wealth of data, we want to extend our heartfelt gratitude to each and every one of you who participated. Your unwavering support and active involvement have set a new benchmark for what's possible in AGS research. Together, we're shaping a brighter future for our community. With your energy and dedication, the sky's the limit for what we can achieve together!

Introducing the Faculty Members of the Aicardi-Goutieres Syndrome ECHO Program

Exciting News! We are thrilled to unveil the exceptional team of experts who will be leading the way in our Aicardi-Goutieres Syndrome ECHO (Extension for Community Healthcare Outcomes) program. Together, they bring a wealth of knowledge and experience to this groundbreaking initiative, dedicated to improving the lives of individuals affected by AGS and advancing healthcare.

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Meet Our Esteemed Faculty:

Min Ae Lee-Kirsch, MD

Dr. Lee-Kirsch, a clinical geneticist, leads a research group at the Technische Universität Dresden that specializes in investigating the molecular mechanisms behind autoinflammation and autoimmunity. Her research particularly focuses on perturbations of the type I interferon (IFN) axis, which includes conditions like AGS. Additionally, Dr. Lee-Kirsch provides clinical care and treatment to AGS patients, combining her expertise in research and patient care for a comprehensive approach to the disease.

Stephen Wong, MD

Dr. Wong, a pediatric rheumatologist at Seattle Children's Hospital, specializes in treating inflammatory brain disorders like AGS. He brings extensive expertise to the care of multiple AGS patients at Seattle Children's Inflammatory Brain Disorders Clinic, providing essential support and treatment for those in need. Dr. Wong's dedication and qualifications make him a trusted resource for this specialized field of pediatric medicine.

Laura Adang, MD, PhD, MSTR

Dr, Adang, an attending physician in the Division of Neurology at Children's Hospital of Philadelphia (CHOP), specializes in the comprehensive care of children diagnosed with leukodystrophies. Her regular leadership in managing AGS patients underscores her commitment to providing the highest level of medical care in this field. Dr. Adang's expertise is a valuable resource for AGS patients and their families seeking expert guidance and treatment.

Davide Tonduti, MD, PhD

Dr. Tonduti, the founder and medical coordinator of COALA (Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies), is an expert in the field of leukodystrophy treatment. Notably, he also serves as a principal investigator in an AGS clinical trial, demonstrating his commitment to advancing research and improving the lives of individuals affected by this condition. His multifaceted role ensures comprehensive care and cutting-edge treatment options for patients.

Nicole Jaffe, MD

As a complex care pediatrician at the Children’s Hospital of Philadelphia’s (CHOP) Leukodystrophy Center, Dr. Jaffe treats many children with AGS. Her approach is rooted in providing comprehensive and holistic care, prioritizing each child's ability to thrive and excel, irrespective of their condition. Dr. Jaffe's dedication ensures that AGS patients receive the support they need to lead fulfilling lives.

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Our faculty members are committed to empowering healthcare professionals to enhance the care and quality of life for those affected by AGS. Together, we can make a difference!

Stay tuned for updates, schedules, and valuable resources coming your way in 2024. We're excited to embark on this journey of knowledge sharing and collaboration 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

Watch the Replay, AGS @ the 2023 ULF Family Conference

The AGSAA hosted a session about AGS at the 2023 ULF Family Conference. With a focus on advocating for individuals with AGS (Aicardi-Goutières Syndrome), this session provide attendees with knowledge about the latest advancements in research, treatment options, and support services available. Whether you're a parent, caregiver, healthcare professional, or an individual living with AGS, this session should provide valuable insights.

The AGSAA and Transposon Therapeutics, Inc. Collaborate To Empower Patients to Make Informed Decisions About Participation in Clinical Trials.

The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) and Transposon Therapeutics, Inc. have joined hands in a new collaboration to educate patients about the new therapeutic opportunity presented by Transposon, incorporate patient needs and preferences into the design of future trials, and recruit for their active clinical trial in Europe. The collaboration strives to prioritize patient perspectives and elevate their voice throughout the trial design process, promoting greater inclusivity in clinical trials for Aicardi-Goutieres Syndrome.

This collaboration will help to educate and inform families about trial procedures, details, and aims using plain language. By bringing together the expertise of both organizations, we can accelerate the development of new treatments for AGS and enhance the care provided to patients and their families.

"We are thrilled to team up with Transposon Therapeutics, Inc. to help AGS families understand new opportunities," said Patrick Winters, Director of Research at AGSAA. "By working together, we can ensure that patient needs and desires are taken into account during clinical trial design and that families have the information they need to make informed decisions about participation in clinical trials."

To get involved and be notified about future developments, interested parties can inquire about the Transposon TPN-101 clinical trial, join the AGSAA patient registry, or subscribe to our mailing list. By working together, we can make a difference in the lives of those affected by Aicardi-Goutieres Syndrome.

For more information, please contact the AGSAA at info@agsaa.org or view the clinical trial details TPN-101 in Aicardi-Goutières Syndrome (AGS).

The Aicardi Goutieres Syndrome ECHO Program

We are excited to announce the development of an Aicardi Goutieres Syndrome (AGS) ECHO program, aimed at democratizing knowledge and expertise for caring for individuals affected by AGS. AGS is a rare and complex genetic disorder that affects the brain, immune system, and many organ systems, leading to severe and often life-threatening symptoms. Creating a platform for universal learning is crucial to ensure that the latest knowledge and understanding regarding the treatment of AGS is disseminated to all communities.

The AGS ECHO program is a virtual learning platform that connects healthcare professionals across the globe to share knowledge, best practices, and strategies for managing AGS patients. We are currently seeking physicians who have experience in the diagnosis and management of AGS to join us as faculty members in shaping and planning this program.

As a faculty member, you will have the opportunity to share your expertise and experiences with other healthcare professionals from around the world, help shape the curriculum of the AGS ECHO program, and collaborate with other experts in the field to improve the care and outcomes of individuals affected by AGS.

We are looking for physicians who:

• Have experience in diagnosing and managing patients with AGS

• Are passionate about sharing their expertise with other healthcare professionals

• Are committed to improving the care and outcomes of individuals affected by AGS

• Can commit to participating in regular ECHO sessions and providing feedback on the program

If you are interested in joining us as a faculty member for the AGS ECHO program, please email us at echo@agsaa.org with your name, contact information, and a brief statement of your experience and interest in AGS. If you are a family affected by AGS, you can nominate a healthcare professional to be invited to participate or join the faculty developing the program.

We believe that by bringing together the expertise of healthcare professionals from around the world, we can improve the care and outcomes of individuals affected by AGS. We look forward to working with you to make this a reality.

Sincerely,

Patrick Winters
Program Coordinator
AGS ECHO Program

Muscle Tone Management

Muscle Tone Management

Explanation, Medications, Therapies

Understanding Abnormal Muscle Tone

The first image shows a child with spasticity in the legs, the second image shows a child with dystonia in the arms and hands, and the third shows a child with hypotonia requiring support to hold her head upright.

Abnormal Tone in AGS

AGS causes abnormal tone and movement disorders due to neurological injury. These disorders, including dystonia, spasticity, and hypotonia, affect muscle tone and can impact movement and motor function in children with AGS. As AGS can present differently in each individual, symptoms may vary in severity and affect different muscle groups. Families may benefit from looking to Cerebral Palsy as a model for information about management and treatment.

Spasticity, Dystonia, and Hypotonia

Spasticity

A condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain.

Dystonia

A movement disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures.

Hypotonia

A term that describes decreased muscle tone. It is not the same as muscle weakness, although the two conditions can happen at the same time.

Managing Muscle Tone in Disabled Children

There are various approaches to managing muscle tone, and we recommend referring to this resource for a comprehensive understanding of their evidence-based effectiveness.

Novak, Iona et al. “State of the Evidence Traffic Lights 2019: Systematic Review of Interventions for Preventing and Treating Children with Cerebral Palsy.” Current neurology and neuroscience reports vol. 20,2 3. 21 Feb. 2020, doi:10.1007/s11910-020-1022-z

Physical Therapy

Physical therapy is a common method used to manage spasticity and dystonia in children. It involves exercises and stretches that help improve muscle control and flexibility.

Botulinum Toxin and Phenol Injections

Botulinum toxin, commonly known as Botox, is a medication that can be injected directly into muscles to temporarily weaken them. Phenol is a chemical that can be used to temporarily deaden nerves in a muscle, which can reduce spasticity. Either of these can help reduce spasticity and improve range of motion. Injections are usually given every few months under sedation and may have side effects such as pain, bruising, and weakness.

Medications

Medications such as Baclofen and Diazepam can be used to reduce spasticity and muscle rigidity. However, they may have side effects such as drowsiness and weakness. Usually taken orally, baclofen can also be delivered by a medical device that is surgically implanted into the abdomen to deliver medication directly into the spinal cord.

Surgeries

As a last resort, surgical interventions may be necessary to release tight muscles and improve mobility. Surgeries are usually considered when other treatments have not been effective. Joint contractures, hip dislocations, scoliosis, and deformed extremities may result from unmanaged spasticity and dystonia.

Conclusion

While managing abnormal muscle tone can be challenging for disabled children and their families, there are various methods available to manage these conditions and improve quality of life. Consult with your doctor to determine the best course of action for your child.

The AGS Scale

What is the AGS Scale?

The AGS Scale is a way for doctors to measure how severe the outcomes are for people with Aicardi Goutières Syndrome (AGS). The team at the Children's Hospital of Philadelphia developed a short, simple questionnaire that scores the severity of a person's overall global neurologic dysfunction. The scale is easy to apply and remains relevant to AGS' unique challenges. It was developed to better understand how individuals affected by AGS change over time.

Why is a neurologic severity scale important for AGS?

Doctors use the AGS Scale to track how Aicardi Goutières Syndrome (AGS) is affecting a patient over time. This helps them determine whether the patient's condition is improving or worsening. This helps doctors make better decisions about how to treat the patient and can help families better understand the course of the disease. The scale also helps researchers study the disease and measure the effect of new treatments.

How was the neurologic severity scale developed?

A team of AGS experts from the U.S. and Italy worked together to create the AGS Scale. They reviewed patient medical records and chose features that could help determine the severity of the disease, including motor, cognitive, and communication abilities. To make sure the results were consistent, multiple doctors examined many patient records and applied the AGS Scale. They then compared the scores from the AGS Scale with results from other scales to ensure that the results were meaningful.

How do I apply the scale?

For each item in a list, a patient can receive one point, and the maximum score is 11.

• Normocephaly (absence of microcephaly)

• Social Smile

• Vocalizations (cooing or babbling)

• Single, meaningful words

• Minimum of three-word phrases

• Head Control (>60 seconds)

• Pincer grasp or self-feeding

• Independent Sitting (>2 minutes)

• Rolling or crawling to goal

• Ambulation with assistance (devices or two-hand assist)

• Independent Ambulation

How do scores compare?

Scores can be compared by AGS type (or gene) and with how doctors considered patients to have "mild", "moderate", or "severe" AGS.

Adang, Laura A et al. “Development of a neurologic severity scale for Aicardi Goutières Syndrome.” Molecular genetics and metabolism vol. 130,2 (2020): 153-160. doi:10.1016/j.ymgme.2020.03.008

How do scores change over time?

For most patients studied, the AGS Scale scores changed the most in the first six months after they were diagnosed with AGS. After that, the scores generally stayed the same. While this stability can be seen as a good thing, it can also mean that patients are less likely to develop new abilities over time. However, in a clinical trial for baricitinib, most children treated with JAK inhibitors saw improving scores on the AGS Scale. This shows that the treatment had a positive effect on their symptoms, and the AGS Scale was important in demonstrating this effect.

AGS Scale & JAK Inhibition

The AGS scale demonstrated that baricitinib (a JAK inhibitor) helped patients with AGS gain new abilities and reach new milestones. For more information, visit agsaa.org/jaki

Vanderver, Adeline et al. “Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.” The New England journal of medicine vol. 383,10 (2020): 986-989. doi:10.1056/NEJMc2001362

What are the AGS Scale's limitations?

While the AGS Scale is helpful in measuring how a person's abilities change over time, it only looks at their abilities in broad terms. People with AGS have a wide range of abilities and intelligence, and this scale cannot fully capture all of their potential. We should not let the AGS Scale limit the opportunities available to people with AGS. Instead, we should focus on helping them to develop their strengths and abilities to the fullest extent possible.

The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) FY23 Funding Opportunities

Calling US Health Professionals and Clinical Researchers! The Global Leukodystrophy Initiative (GLIA) seeks to promote collaborative research efforts across the leukodystrophies - now is the time to apply for their Career Development or Pilot Project awards.

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GLIA-CTN Pilot Project Award

• What is expected: The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) wants to grant (2) Pilot Project Awards designed to generate preliminary research data needed to secure more substantial funding through traditional federal, institutional, and/or industry grant mechanisms.

• When to apply: Deadline is February 20th, 2023 (check website for details).

• Where to apply: https://theglia.org/gliactn/funding-opportunities#fy23pprfa

• Why should you apply: The GLIA-CTN Pilot Project Award will provide up to $20,000 for research and salary, inclusive of appropriate fringe and indirect costs allowing you to explore key knowledge gaps with an innovative, early-stage project.

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GLIA-CTN Career Development Award

• What is expected: The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) wants to grant (1) Career Development Award. This is a mentored award designed to provide "protected time" for clinically trained individuals to receive supervised training in biomedical research related to leukodystrophies.

• When to apply: Deadline is February 20th, 2023 (check website for details).

• Where to apply: https://theglia.org/gliactn/funding-opportunities#fy23cdrfa

• Why should you apply: The GLIA-CTN Career Development Award will provide up to $85,000 for research and salary, inclusive of appropriate fringe and indirect costs. The award supports a period of supervised research, in conjunction with career development opportunities, for physician-scientists who require additional mentored training and support during development of an innovative research project.

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Questions: Questions regarding the application requirements, submission guidelines, etc. for either award may be directed to GLIA-CTN Program Manager, Omar Sherbini, MPH at email@theglia.org.

Let's find a way forward, together!

AGSAA

Late-Onset AGS

A description of "late-onset" AGS based on 34 children whose disease presented after a year of age.

Late-onset AGS Appears to be More variable

Children with late-onset (aka "atypical") AGS can be different from each other. The clinical course, brain injury, and developmental outcomes of children with late-onset AGS fall on a wider spectrum than that of early infantile onset.

Diagnostic Failures in Atypical AGS Are Common

Diagnosis is complicated by the fact that late-onset children often do not have classical AGS MRI findings (e.g. few have calcifications). While the majority have a medical encounter within a few days of onset, the median time to brain imaging (MRI) is over a month. And, many take over a year to be properly diagnosed. Misdiagnosis is common.

Late-Onset Children Suffer Complications Before Disease Onset

The majority of children with late-onset AGS have a history of AGS-related complications prior to the severe onset of disease. Chilblains, systemic inflammation, irritability, developmental delay and aseptic fevers are common.

Symptoms Worsen Just before AGS HITS

After the early phase, most individuals with atypical AGS demonstrate increasing and worsening features of systemic inflammation during what is called a “prodromal” period. This period typically starts around 1 year and 3 months of age and often includes developmental delay, fevers, irritability, etc.

Then They Crash

AGS causes more severe neurological injury during what is called the "fulminant" phase. This period typically starts about one month after the "prodromal" period and can result in the development of spasticity and dystonia and the loss of gross motor function, vocabulary, and speech.

And Wait For Relief

The length of the "fulminant" phase can vary greatly, but about half of children will have experienced the worst of it within 4 weeks. For a few it fade within one week; while for many others (over one-third) it may continue longer and be considered "chronic."

Piccoli, Cara et al. “Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.” Pediatric neurology vol. 115 (2021): 1-6. doi:10.1016/j.pediatrneurol.2020.10.012

2022 Giving Tuesday Campaign

This Giving Tuesday, AGSAA is focusing its flash fundraising drive to accelerate life-saving Early Identification and Newborn Screening Programs in development.

Identifying AGS early, whether at birth with an effective and accurate Newborn Screening or through improved awareness and diagnostic criteria, gives affected families around the world the best opportunity to prevent disease or intervene ASAP. It also raises and amplifies the profile of our disease to encourage more focused support from collaborators, better funding opportunities, more scientific and research breakthroughs, and facilitate the ongoing development of better treatment options. It will help us to shine a big, bright undeniable light to highlight the depth of our community and its current needs, to make the future better for all families living with AGS.

There are so many ways AGS-affected families, our allies, and anyone wishing to support our work can give on this exciting global day of generosity.

To give time and skill, please email us any time at info@agsaa.org. To donate money, we have a few options: Instagram; Facebook - one time or monthly (to qualify for Meta’s giving season second month match); or direct via AGSAA. To give support or voice, please consider sharing a heartfelt and personal appeal on social media and/or directly to your contacts to build awareness around the importance and urgency of these vital programs."If we had an #agsnbs..." would be a great convo starter for people who care about you to understand exactly why we need this support.

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.

Introducing the AGSAA Podcast

Another podcast? That's right! We'll be recording and translating regular podcasts (well, vodcasts actually). We've thought hard about how to best share all of the happenings and insights going on in AGS and we've settled on a format that will help us do it less formally. We've been labelled the "AGS Advocacy Leaders", so we want to have more a dialogue with you all. We'll regularly invite families, scientists, therapists, experts, clinicians, etc for short conversations about topics relevant to the AGS community.