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.

Our History

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.

Annual Reports

  1. 2020 Annual Report
  2. 2019 Annual Report
  3. 2018 Annual Report
  4. 2017 Annual Report
  5. 2016 Annual Report
  6. 2015 Annual Report

Collaborative Partnerships

The ACD is proud to partner with the following rare disease organizations. Together, we are part of a collaborative effort for rare diseases.

Community Partnerships