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

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

Like many rare diseases, PDE suffers from a severe lack of research funding due to limited commercial interest. But Dr. Coughlin has never let that stop him. His dedication to this community has already led to important breakthroughs in diagnosis and care.

Now, Dr. Coughlin’s lab is partnering with Alnylam Pharmaceuticals on a promising new treatment approach. Together, they are 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 is ready to match every dollar raised—up to $50,000—to support this effort. Together, we want to raise $100,000 to fuel the science that PDE families desperately need.

If you’ve been waiting for a meaningful way to make a difference, this is it. Help us move this research forward—your gift will go twice as far.