CDA Funds Over $100,000 for Creatine Deficiency Research Grants

CARLSBAD, CALIFORNIA, USA, Feb. 1, 2022 / — The Association for Creatine Deficiency (ACD) today announced funding totaling $105,000 for early career researchers who study cerebral creatine deficiency syndromes (CCDS). The awards include ongoing funding for three grants totaling $75,000 for researchers whose projects were initially funded last year and progressed through the first year, and a new $30,000 grant.

Researchers whose projects have been funded for the 2022-2023 funding period, which begins today, February 1, 2022, include:

– $30,000 each to continue the Precision Medicine Collaborative studies of drug redirection for Creatine Transporter Deficiency (CTD) led by Dr. Peter Axerio-Cilies (in the lab of Dr. Sylvia Stockler at BC Children’s Hospital Research Institute in Vancouver) and Dr. Charles Kuntz (in the lab of Dr. Jonathan Schlebach at Indiana University, Bloomington)

– $30,000 for Léa Broca-Brisson in collaboration with Dr. Aloise Mabondzo to develop organoids for CTD that allow better modeling of the disease

– $15,000 ongoing funding for Alex Lee (in Dr. Andreas Schulze’s lab) for basic science research to understand the mechanisms of creatine

The overarching goal of the CDA Fellowship Program is to fund opportunities that have the potential for translational success, leading to clinical trials for treatments for creatine deficiency.

Dr. Kuntz and Dr. Axerio-Cilies, along with Dr. Schlebach and Dr. Stockler, are leading the way in identifying drugs that can rescue creatine uptake through different types of SLC6A8 mutations. The two fellowship projects complement each other in characterizing specific mutations and how they respond in both computer simulation and Petri dish experiments to existing compounds. Through these studies, research is identifying potential treatments targeting specific genetic variants by identifying reusable drugs that can restore the functional activity (creatine uptake) of dysfunctional SLC6A8 transporters. Results from the first year of these studies have shown that there are compounds that can increase creatine transport in non-functional mutations. As studies progress through the second year, they aim to follow up on this finding by understanding the rescue mechanism (expression or function) and collecting similar data on additional variants, and then verifying this. discovered in fibroblasts from patients carrying the same mutation. Additional information on the drug redirection projects of Dr. Axerio-Cilies and Dr. Kuntz can be found in the December 2021 ACD Creatine Decoded article.

ACD welcomes Broca-Brisson, a PhD student at Paris Saclay University in France, as the new recipient of an ACD scholarship. Broca-Brisson’s project focuses on developing human brain organoids from patients with CTD as a tool to assess the effectiveness of potential treatments. It also plans to identify measurable biomarkers as a benchmark for measuring the success of treatments, particularly with regard to the improvement of cognitive disorders.

Lee, a graduate student in Dr. Andreas Schulze’s lab, will continue his work on understanding the regulatory mechanisms of genes essential to creatine synthesis and the transport pathway.

“ACD is funding groundbreaking research into creatine deficiency. The outcome of these projects can help inform future research and even lead to treatments for CTD. We are grateful for the financial support of our donors that makes these initiatives possible and helps us move towards better outcomes for all patients with CCDS,” said CDA Board Chair and Director of Research. , Laura Trutoiu, Ph.D. “We are also grateful and welcome researchers who join our community and work alongside us in the search for cures.”

In 2021, ACD announced a five-year vision to invest $5 million in CCDS research with the goal of having five Investigational New Drugs (INDs) for creatine deficiencies underway with the FDA by 2026. INDs can translate into clinical trials and treatments for CTD and better treatments for GAMT. With the record-breaking 2021 Holiday Heroes campaign, ACD has raised over $170,000 to launch these and other research efforts.

To support its ambitious research vision, ACD works with research and scientific partners to fund research grants, including the fellowship program, distribute biological samples, and collect survey and patient registry data, among other things. collaboration opportunities. The parent-led organization’s research strategy is to fund, create and share tools and resources that can accelerate the discovery of treatments for children living with creatine deficiencies. ACD’s approach is collaborative and leverages open science to shorten the time needed for development, with an emphasis on supporting the widest possible range of relevant research efforts in the scientific community to maximize chances of getting treatment.

ACD is a proud member and beneficiary of the Rare As One network supported by the Chan Zuckerberg Initiative. More information about the ACD research initiative, including funding opportunities, is available at

About CDA: The Association for Creatine Deficiency was formed in 2012 with a mission to eliminate the challenges of living with Cerebral Creatine Deficiency Syndrome. ACD is committed to providing education to patients, families and the public to advocate for early intervention through newborn screening, and to support and stimulate medical research for CCDS treatments and cures. Because CCDS mimics the symptoms of other medical conditions, patients are often first diagnosed with autism, cerebral palsy, epilepsy and other disorders. Proper diagnosis and early intervention are essential to establish the screening and treatments necessary to improve the CCDS patient’s quality of life and longevity. For more information on CDA, please visit

Faith Ochoa
Association for Creatine Deficiency
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