PPP2CA Pathways
Donate today to find a treatment tomorrow!
Your donation will directly contribute to developing a medical treatment for Houge-Janssens Syndrome type 3.
Help Us Create a Better Future for Those with Houge-Janssens Syndrome Type 3!
Imagine knowing that a medical breakthrough is within reach—but no one is funding the research to make it happen. This is the reality for families affected by Houge-Janssens Syndrome Type 3 (HJS3), a rare neurodevelopmental disorder caused by changes in the PPP2CA gene. Children and young adults with HJS3 face intellectual disability, epilepsy, autism, low muscle tone (hypotonia), and more. Despite its severity, no dedicated research funding exists, leaving families without hope for treatment.
HJS3 is not confined to one country or region—affected individuals have been identified on at least four continents. Yet today, there are no research models, no drug trials, and no therapies in development for this disorder. Other forms of Houge-Janssens Syndrome—HJS1, HJS2, and HJS4—have established research models and, in some cases, clinical trials. HJS3 does not. Without a research model, scientists cannot study the disorder, develop treatments, or test potential therapies.
We are working with a leading expert in the field at KU Leuven in Belgium to take the first critical step: creating a lab model for PPP2CA-related disorders. There are two options:
✅ Mouse model – Cost: $585,000
✅ Mini-brain (organoid) model – Cost: $293,000
These models are complementary, meaning both are needed for meaningful progress. By funding these models, we open the door for drug testing, therapy development, and eventual clinical trials—none of which can happen without this essential research.
PPP2CA Pathways has set an initial goal of raising $300,000 to support the creation of the first lab model. While this is a significant amount, every donation—large or small—moves us closer to making life-changing research possible. Your donation will directly fund groundbreaking scientific research that could change the future for families worldwide.
We are not waiting for another organization to step in—we are taking action now. But we can’t do it alone. Your support can provide hope where none existed before. Every dollar raised brings us closer to understanding this disorder and finding treatments that could improve lives.
Thank you for being part of this urgent mission.