CTNNB1 syndrome is a severe, rare neurodevelopmental disorder. It affects all aspects of a patient’s life, including movement, speech, and the ability to live independently.
The effects on patients’ daily lives and the condition’s natural progression, often referred to as natural history, are still poorly understood. To create an effective cure or treatment for this disease, we must accurately understand how the disease progresses with treatment and how that differs from its natural course.
Sysnav Healthcare supports the CTNNB1 Foundation for the Dragonfly Study, the first international Natural History Study (NHS) for CTNNB1 Syndrome patients. Our flagship DHT Syde will be used for continuous evaluation of patient function in real life during the study.
This meaningful and reliable data will enhance our understanding of disease variability and the functional impact on daily life, offering deeper insights into the natural trajectory of CTNNB1 Syndrome.
We at the CTNNB1 Foundation are deeply grateful for this support, as it gives us the chance to explore potential clinical endpoints for CTNNB1 syndrome. One of the biggest challenges we face is the lack of known biomarkers, which makes it difficult to measure the effectiveness of treatments. With Sysnav’s technology, we hope to overcome this obstacle by gaining more precise insights into patients’ movement and daily functioning, ultimately helping us better evaluate treatment outcomes. – Špela Miroševič, Founding President at CTNNB1 Foundation
“Sysnav’s mission is to support the discovery of drugs through meaningful functional assessment of the patient in their daily life. For rare and ultra-rare diseases, it is crucial to have robust endpoints that can power clinical trials with fewer patients while still demonstrating the effectiveness of drugs.” – Damien Eggenspieler – Sysnav Healthcare Director
About CTNNB1 Foundation
The CTNNB1 Foundation is a non-profit organization dedicated to improving the lives of children diagnosed with rare genetic mutations. Their program includes the development of a treatment for CTNNB1 syndrome. Findings from their studies will also be useful for the research and treatment of other genetic diseases.
To learn more about CTNNB1 Foundation, visit their website.