For families living with GAMT deficiency, treatment has always missed the mark – until now.

GAMT is a rare genetic condition where the body can't produce creatine – the fuel the brain depends on to function and develop. Without it, our children face developmental delays, seizures, and intellectual disabilities.

Right now, GAMT is treated with oral creatine supplements and a carefully restricted diet. It helps, but the underlying problem, a toxic buildup of a substance called GAA, never fully goes away with supplements alone. The long-term effects of that lingering toxin are still unknown, and families live with that uncertainty every day.

But there is hope on the horizon.

Dr. Alanna Schepartz at UC Berkeley is the world's leading researcher working to change this. Her approach? Treat the root cause. Rather than supplementing around the missing enzyme, her research aims to replace it with enzyme replacement therapy. Many other enzyme deficiency disorders already have this kind of treatment. GAMT deserves one too.

Dr. Schepartz's proposal has already been selected for funding. Now we need to cross the finish line.

We need to raise the final $50,000 to make it happen.

Your donation directly fuels this research. A successful enzyme replacement therapy could mean:

Freedom from strict daily diets that restrict what patients can eat
Fewer or no daily supplements, reducing the burden on patients and caregivers
Better outcomes for those diagnosed later, and lifelong health for those caught early
A true cure pathway for children not yet born who will one day receive this diagnosis

This is groundbreaking, once-in-a-generation science. Every dollar brings Dr. Schepartz's lab one step closer to a therapy that could transform life for GAMT families today and for generations to come.

Please give what you can. Help us fund a better treatment.

The Association for Creatine Deficiencies (ACD) was established in 2012, by parents of children diagnosed with Cerebral Creatine Deficiency Syndrome (CCDS) that decided a rare disease needs a unified community to affect change for the future. The ACD Board consists of unpaid CCDS parent professionals committed to this cause.

Better Treatment for GAMT

The missing piece: help fund enzyme replacement therapy to treat GAMT

Team Members