Association for Creatine Deficiencies backs $1.1M in research grants

The Association for Creatine Deficiencies said it has invested more than $1.1 million in Race for a Cure research awards at Johns Hopkins, UC Berkeley and Stanford. The projects aim to speed treatment development for CTD and GAMT deficiency, two cerebral creatine deficiency syndromes with no approved therapies.

Why it matters: - The funding targets treatment-focused research for cerebral creatine deficiency syndromes, a group of rare disorders where effective therapies remain an urgent unmet need. - The three awards are meant to move promising science closer to clinical trials. - ACD says the program is part of its broader push to support early intervention, research and eventual cures for CCDS.

What happened: - The Association for Creatine Deficiencies announced more than $1.1 million in Race for a Cure investments. - The grants support research at Johns Hopkins University, the University of California, Berkeley, and Stanford University. - The funded work focuses on Creatine Transporter Deficiency (CTD) and Guanidinoacetate Methyltransferase (GAMT) Deficiency. - ACD launched Race for a Cure in 2025 to speed high-impact projects that could advance to clinical trials.

The details: - Johns Hopkins researchers Dr. Kannan Rangaramanujam and Dr. Sujatha Kannan received a two-year investment to develop dendrimer nanoparticles that can deliver creatine to the brain and neurons without relying on a creatine transporter. - Published research has already shown that dendrimer nanoparticles carrying creatine can cross the blood-brain barrier and release creatine sustainably inside cells. - ACD said the Johns Hopkins work could help pave the way to clinical translation for CTD. - Dr. Rangaramanujam is the Arnall Patz Distinguished Professor of Ophthalmology and co-director of the Center for Nanomedicine at the Wilmer Eye Institute, Johns Hopkins School of Medicine. - Dr. Kannan is the Richard J. Traystman Endowed Professor of Anesthesiology and Critical Care Medicine and Pediatrics at Johns Hopkins University, and a research scientist at the Hugo Moser Research Institute, Kennedy Krieger Institute. - UC Berkeley’s Dr. Alanna Schepartz received a research award to develop a method for delivering a key enzyme directly into cells to restore creatine production in people with GAMT deficiency. - Her team is studying how to help GAMT escape lysosomal degradation and reach the cytoplasm, where it can restore normal creatine production. - If successful, the approach could bypass the genetic defect and replace creatine production at the cellular level. - Dr. Schepartz is the C.Z. and Irmgard Chu Distinguished Professor of Chemistry and Molecular and Cell Biology at UC Berkeley. - Stanford’s Alex Edwin, working with Al Garofalo and Dr. Thomas Montine at the Montine Lab, received a Race for a Cure award to advance creatine-delivery strategies for CTD. - The Stanford team is pursuing two approaches: cell-penetrating peptides and nanoparticle-based molecular transporters. - Both strategies are designed to bypass the faulty creatine transporter and restore creatine where cells need it most. - Edwin said the goal is to reestablish cellular energy homeostasis in the brain, muscle and other metabolically active tissues. - Edwin earned a BS in Neuroscience from Santa Clara University in 2023 and has worked in the Montine Lab since 2021.

Between the lines: - ACD is concentrating on approaches that are mechanistically different but share the same goal: getting creatine into cells without depending on the defective transporter. - The portfolio spans nanoparticle delivery, enzyme delivery and cell-penetrating molecules, suggesting ACD is betting on multiple paths rather than a single candidate. - The focus on translational science signals an emphasis on therapies that can move toward patients, not just early-stage discovery.

What's next: - The Johns Hopkins project will use the two-year award to push toward clinical translation. - The Berkeley and Stanford teams will continue developing delivery methods for GAMT deficiency and CTD, respectively. - ACD said additional support for the program can help fund the next round of research through Race for a Cure. - ACD also directs supporters to more information about the organization.