To provide patient, family, and public education, to advocate for early intervention through newborn
screening, and to promote and fund medical research for treatments and cures for Cerebral Creatine
Deficiency Syndromes (CCDS).
Vision of the Future
Our vision is to have effective treatments and newborn screening for all three CCDS while providing
community support. In this future, the rare disease diagnostic odyssey changes from seven years to seven days to
treatment, and all CCDS patients achieve their potential.
The Association for Creatine Deficiencies (ACD) was established in 2012, by parents of children diagnosed with a 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 parents.
Symptoms of CCDS mimic other medical conditions, causing patients to often be misdiagnosed. Proper diagnosis and early intervention are critical to establishing treatments needed to improve life quality and longevity for the CCDS patient. The ACD was established to raise awareness and education of CCDS among the medical community, to advocate on behalf of families and patients living with Cerebral Creatine Deficiency Syndromes, and to support and fund research initiatives to improve treatments and develop cures for CCDS.
2019 Annual Report
2018 Annual Report
2017 Annual Report
2016 Annual Report
2015 Annual Report
The ACD is proud to partner with the following rare disease organizations. Together, we are part of a collaborative effort for rare diseases.