The Ravicti clinical trial will be focusing on the selected GABA-A variant mutations. This choice was informed by a study conducted by Dr. Katty Kang from the Kang Lab at Vanderbilt University, which affirmed the positive impact of Ravicti on individuals with GABRA1 and GABRG2.

Let’s unite and make a difference in the lives of those affected by GABA A Variants.

Currently, research has primarily relied on artificial models, but by obtaining samples from individuals with GABA-A, we can generate cell lines that can be developed into neurons. This advancement is vital for refining treatment strategies, as it allows us to study the disease at a cellular level, leading to more personalized and effective therapeutic approaches. Biomarkers serve as indicators to assess the effectiveness of clinical trials. Your child’s contribution to this study through sample donation will play a pivotal role in advancing our understanding and development of targeted treatments for GABA-A.

CombinedBrain was conducting a study examining Proteomics, Metabolomics and Methylomics in the blood to identify potential biomarkers, with the study concluded at the end of 2023. 

We will periodically request samples to monitor changes as patients grow to observe any alterations in the course of the disease over time.

If you are willing to contribute, please complete the form below to indicate your willingness to donate blood, urine, or other tissue/fluid samples from your child. 

Let’s unite and make a difference in the lives of those affected by GABA A Variants.