PDE

Support Groundbreaking Research to Help Children with Pyridoxine-Dependent Epilepsy (PDE)

Join us in supporting Dr. Curtis Coughlin’s research at the University of Colorado, Anschutz Medical Campus.

Pyridoxine-Dependent Epilepsy (PDE) is a rare genetic disorder that, when diagnosed early and treated properly, can lead to significantly better outcomes for children. Sadly, many kids are still misdiagnosed, delaying treatment and increasing the risk of seizures, developmental delays, cognitive impairments, and other complications.

Like many rare diseases, PDE receives very little research funding due to limited commercial interest. But despite these challenges, Dr. Coughlin has dedicated his career to making a difference for this underserved community. His work has already led to critical advances in the diagnosis and treatment of PDE.

Now, Dr. Coughlin's lab is working on a promising new treatment approach testing a small interfering RNA (siRNA) drug that targets the first step in lysine metabolism, upstream of the ALDH7A1 gene that causes PDE.

The goal of this research is to determine whether the siRNA drug can lower the levels of toxic metabolites that play a major role in causing seizures and cognitive impairment in PDE. By analyzing how the drug affects metabolite levels in treated mice, the study will help determine whether this approach could ultimately reduce the need for burdensome treatments like the lifelong lysine-restricted diet and improve neurological outcomes for individuals with PDE. This is an important preclinical proof-of-concept study needed to advance toward a clinical trial.

You can help. CurePDE has generously offered to match all donations up to $50,000—doubling the impact of your gift. Every dollar you give helps drive progress and brings hope to families affected by PDE.

If you’ve been looking for a way to make a real difference in the life of a child, this is it.