Clinical trials on Aicardi-Goutières Syndrome (AGS)

Aicardi-Goutières Syndrome (AGS) Overview

Aicardi-Goutières Syndrome (AGS) is a rare genetic disorder that primarily affects the brain, immune system, and skin. It is characterized by an early onset of encephalopathy, which can lead to severe neurological disabilities. The syndrome mimics congenital viral infections, leading to a misdiagnosis in many cases. AGS is caused by mutations in any one of several genes, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. These mutations lead to a malfunction in the body’s ability to repair DNA or to properly regulate the immune response, resulting in chronic inflammation and damage to the brain.

The symptoms of AGS can vary widely among affected individuals but often include intracranial calcifications, leukodystrophy, cerebral atrophy, and delay in development. Additional features may include chilblain lupus-like skin lesions and elevated levels of interferon-alpha in the cerebrospinal fluid, a hallmark of the disease. Diagnosis is typically based on clinical observation, magnetic resonance imaging (MRI) findings, and genetic testing. Although there is no cure for AGS, treatment is symptomatic and supportive, focusing on managing symptoms and improving the quality of life for affected individuals.

Due to its rarity and complexity, AGS requires a multidisciplinary approach to care, involving specialists in neurology, immunology, dermatology, and genetics. Early diagnosis and intervention are crucial to managing symptoms and preventing complications. Ongoing research continues to explore the underlying mechanisms of AGS and potential therapeutic strategies, offering hope for better treatments in the future.

  • CT-EU-00089022

    Study on a new medicine for Aicardi-Goutières syndrome

    This research study revolves around a drug called TPN-101, being tested for people with a disease called Aicardi-Goutires Syndrome or AGS. The researchers want to involve a few people between 10-16, who are over a year old and weigh over 10 kg. They’ll get the mentioned drug, the dose of which they’ll adjust depending on their weight, anywhere from 100 mg to 400 mg, so everyone gets an equal percentage. There are three parts to the study. First, they’ll check everyone’s health for 6–8 weeks before starting. Then, for the next 48 weeks, patients will regularly take TPN-101. Then, over 12 weeks, the researchers will see how everyone’s doing, without the medication. They’ll be looking for any side effects and response to the treatment during the study.

    • cenzawudyna/TPN-101