Association for Creatine Deficiencies

The Association for Creatine Deficiencies aims to advocate for research and adoption of newborn screening for Cerebral Creatine Deficiency Syndromes, CCDS, fund research to get closer to effective treatments and a cure, and support and educate those with CCDS and their families.

In 2024, we specifically aim to fund 3 ACD fellowship grants to young investigators, a drug repurposing research project, an investigation of fNIRS technology for monitoring disease progression or improvement in CCDS patients in partnership with Boston Children’s Hospital, and the second year of the ACD-funded Creatine Deficiency Research Center (CDRC) at the University of Utah.

We have a growing network of researchers in the CCDS space that are planning, or continuing, research on creatine deficiencies. Our organization keeps these investigators focused on creatine deficiencies by connecting them with colleagues at our CCDS conferences, hosting a patient registry to help them learn more about the diseases, and directly funding some of their work. Our community has two major fundraising campaigns every year: Holiday Heroes and the Walk for Strength. Holiday Heroes fundraising efforts are targeted towards CCDS research funding. In addition to the community-based fundraising efforts, we have applied to several foundations for help with funding additional research projects, advocacy efforts, and operational costs for the organization.

Meeting our goals in 2024 is very likely because of a growing community of families, researchers, medical professionals, staff and an impassioned board of directors. We have high year over year growth and continue to widen the scope of research in creatine deficiencies. As we invest more in research, and find promising data that indicates success, the interest in our community to support these projects grows!

GAMT Deficiency Newborn Screening was added to the Recommended Uniform Screening Panel (RUSP) in early 2023 by Secretary of Health and Human Services, Dr. Alex Becerra. This was after 7 years of advocacy work by ACD. Visit https://creatineinfo.org/nbs/ to see a map of the states adding GAMT to their newborn screening panel. 21 states or territories in the USA, Canada and Australia have approved screening and set upcoming start dates, 8 states or territories are currently screening, and 5 additional US states have laws in place that require the eventual adoption of GAMT now that it’s been added to the RUSP.

Estimates are that up to 3.5% of undiagnosed cognitive disorders can be attributed to creatine deficiencies. Early detection can change the course of disability progression with early treatment and supplementation for GAMT and AGAT, and ACD is focused on finding a treatment for CTD. We aim to have newborn screening for all three CCDS be a norm, both nationally and internationally.