Children with the rare disease Pyruvate Dehydrogenase Complex Deficiency (PDCD) often die in infancy. Many of those who survive face severe neurological, developmental, and physical challenges, including severe energy depletion, intellectual disability, limited mobility, inability to communicate, developmental delay, and irreversible brain damage. PDCD is a devastating, life-threatening, progressive condition. The only way for PDCD kids to survive is to adhere to a strict ketogenic diet that is harsh on the body and associated with serious complications. Even on a rigid keto diet, PDCD kids continue to experience recurring hospitalizations, a need for mobility devices, and medical support for many other daily activities. 
 
But there is hope. 
 
A targeted treatment for PDCD – sodium dichloroacetate (DCA) – has shown encouraging signs in clinical research studies. In a national Phase 3 clinical study, PDCD patients demonstrated a reduction in lactate, the primary biomarker of the disease. In longer trials, including open-label studies, DCA treatment has resulted in sustained developmental improvement in children with PDCD. Critically, when compared to historic cohorts, treatment with DCA has substantially reduced mortality in patients with PDCD. DCA is also an incredibly safe, well-understood intervention. It has been studied as a treatment for mitochondrial diseases for nearly 50 years with very limited adverse events.  
 
Despite these data, the FDA declined to approve DCA in September 2025. More than 80 leading researchers and clinicians in the mitochondrial disease space signed a joint letter of support urging FDA to pursue an expedited, flexible regulatory path forward for DCA as the first and currently only potential treatment for PDCD. In addition, five patient advocacy groups issued a statement expressing deep disappointment in the FDA’s decision:  
 
“While we fully support rigorous scientific standards, regulatory flexibility is essential for rare disease populations like PDCD, where delays in access to potentially life-saving therapies can lead to irreversible damage – or even death. Make no mistake, that is the risk when it comes to DCA not being available for PDCD patients.” 
 
For the PDCD community, this issue is far more than numbers in a regulatory filing. It’s about every child with PDCD – those we have tragically lost and those who are still fighting. It’s about the parents who have seen their children “come back to life” in DCA clinical trials and who are terrified they will lose access to this therapy. It’s about every PDCD family that is still waiting for hope. 
 
We urge the FDA to approve DCA – the only treatment that has given PDCD kids stability and improved their lives. This is not about lowering the bar. It’s recognizing that for rare diseases, the bar must be different. When another randomized trial is impossible and when a safe therapy is available for a life-threatening disease with no other options, the FDA should use the flexibility that already exists to weigh patient outcomes, not just numbers. 
 
We ask the FDA, publicly and directly, to listen to PDCD families, meet our children, and hear our stories. We want a seat at the table to help shape a path forward. A path that values real-world evidence, patient experience, and the unique challenges of ultra-rare diseases. 
 
A path that offers hope. 
 
Some of our voices can be heard below: 
 
“[My daughter] Harlow entered the [DCA] trial…and we saw changes no one could deny. She had more energy. Her mind was sharper. Her quality of life improved. DCA gave her what the ketogenic diet alone could not: stability, relief, and a glimpse of possibility.” 
-Kim Higbee, Patient Worthy op-ed 
 
“We want the FDA to sit down with us, sit down the PDCD patient community and hear our stories… If it’s beneficial even a tiny bit, that is going to improve the quality of [my daughter Piper’s] life and the length of her life. So we’re willing to take that risk – especially if there really isn’t a risk if the FDA has said that it’s safe.” 
-Layna O’Connor, West Michigan Channel 13 News 
 
“I could tell when [my daughter] Violet was getting the drug because her lactic acid dropped from five to two, then to one, a healthy number for the first time ever. I can say without a doubt that Violet was on track to develop seizures because her EEG was abnormal without interventions, but normalized after treatment. She is now doing things a neurologist once told us would not be possible; she is starting to put full sentences together and last week she took her first independent baby steps in physical therapy.” 
-Frances Pimentel 
 
“Within a couple weeks of starting DCA, we began to see changes [in our daughter, Talia]. We saw a new joy and lightness in her, as if she could forget, even briefly, some of the pain and exhaustion she was facing, and just be a kid. She took her first steps at 3 years old, just 4 months after starting DCA. Within one year, she transitioned from a feeding tube to eating and drinking completely by mouth.” 
-Meagan DeRaps