AGS is a rare condition affecting the immune system, causing excessive inflammation. Please review this information carefully and feel free to contact your healthcare team with any questions.
Understanding Aicardi-Goutières Syndrome (AGS)
Aicardi-Goutières Syndrome (AGS) is a rare genetic condition that primarily affects the brain, immune system, and skin. It is classified as an ‘interferonopathy,’ meaning that it involves an overactivation of the immune system’s interferon pathway. Interferons are proteins that usually help the body fight off viral infections. However, in children with AGS, this pathway is overly active, even when there is no infection. This can cause the immune system to mistakenly attack the body, leading to unwanted inflammation.
The symptoms of AGS can vary but often include:
- Neurological symptoms, such as developmental delay, muscle stiffness, and difficulties with movement and speech.
- Skin symptoms, like red or purple sores called chilblains that can appear on fingers, toes, and ears.
- Pain and swelling in the muscles or joints, often without any obvious infection.
- Episodes of unexplained fever.
The severity of symptoms can vary, and not all children with AGS will experience all of these symptoms.
What is Baricitinib and how does it work?
Baricitinib is part of a group of medications called immunotherapies and is specifically known as a Janus kinase (JAK) inhibitor. It works by blocking pathways in the immune system that are overactive in children with AGS. In AGS, the body mistakenly attacks itself, causing inflammation due to an overactive immune response, especially in pathways involved in producing interferons.
By blocking these pathways, Baricitinib helps to reduce inflammation, which can lessen symptoms such as skin rashes, fevers, muscle pain, joint swelling, and other signs of immune activation. The primary goal of Baricitinib treatment is to manage these inflammatory symptoms and improve overall well-being.
While Baricitinib may help improve quality of life for children with AGS, its effect on neurological symptoms is still under study. In some cases, parents have reported improvements in overall well-being, even if neurological symptoms remain unchanged due to existing brain involvement that occurred before treatment began.
Monitoring tests before and during treatment
Before your child starts taking Baricitinib, a series of tests are done to ensure safety, including:
- Blood tests to check liver and kidney function, and overall health.
- An echo (heart ultrasound) to monitor heart health.
- An eye exam to check for any pre-existing issues.
- Chickenpox immunity check or vaccination if needed, as Baricitinib can make chickenpox infections more severe.
During treatment
Blood tests continue at one month, three months, and every three months afterward, with a repeat echo and eye examination every six months.
How to give Baricitinib
Baricitinib is given orally, either as a tablet swallowed whole or administered through a feeding tube if necessary. The dose is based on your child’s weight, determined by the Inherited White Matter Disorders (IWMD) doctor. Always follow the dosage and instructions provided by your healthcare team, and do not adjust the dose without consulting them.
Stopping Baricitinib and surgery precautions
DO NOT stop Baricitinib suddenly unless advised by a doctor, as it may cause symptoms to worsen or unexpected side effects. The treatment is reviewed every six months and continued only if beneficial. If your child needs surgery, inform the IWMD team ahead of time. In some cases, Baricitinib may be paused or gradually reduced before the procedure to lower infection risks.
What to do if your child has contact with Chickenpox
If your child has close contact with someone with chickenpox, notify your local paediatrician as soon as possible. Children taking Baricitinib have a weakened immune response, making chickenpox more serious. Your healthcare provider may prescribe preventative medication like aciclovir to reduce the risk of severe infection.
Are there any risks?
While Baricitinib can help manage AGS symptoms, it has potential side effects:
- Increased risk of viral infections – Including chickenpox or herpes, which may need special management.
- Blood clots – Watch for signs like leg swelling or sudden shortness of breath.
- Vision or heart changes – Regular eye and heart checks help detect any issues early as a slight increase in eye pressure was noted in a few early cases.
Children on Baricitinib should NOT receive live vaccinations. Contact your healthcare provider if you notice any unusual symptoms.
How do I collect my supply of Baricitinib?
Baricitinib must be prescribed by an IWMD doctor at Leeds Children’s Hospital. When you have three weeks of medication left, email Jade Belton (Service Coordinator) to arrange a prescription. You may choose to have your medication delivered to a local Boots pharmacy of your choice.
Jade Belton (Service Coordinator)
Administration of Baricitinib
- Baricitinib is a medication that comes in tablet form only.
- For children who are unable to swallow tablets, the medication should be dissolved in 10ml of room temperature water, swirled and then either taken orally or administered via the usual medication route for nil by mouth patients. Following this a further 10ml of water should be added to the container the medication was dissolved in and also administered.
- Baricitinib tablets should NOT be crushed and mixed into purees or foods.
Who to contact if you have questions
If you have any questions or concerns, contact the Inherited White Matter Disorders team:
