Information for Researchers

The Association for Creatine Deficiencies (ACD) is proud to partner with the National Organization for Rare Disorders (NORD) to provide a new Natural History Study & Patient-Reported Registry for Cerebral Creatine Deficiency Syndromes.

The primary aim of the CreatineInfo Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of the disease and its course and pace over time.

Other registry objectives include the following:

The CreatineInfo Registry collects disease-specific natural history data about individuals with Cerebral Creatine Deficiency Syndromes (CCDS). Registry questionnaires were built under an Advisory Board Oversight and cover topics including, but not limited to:

If you would like access to the CreatineInfo Registry data for a research project, or if you have questions, please contact our registry administrator at

Access to CreatineInfo Registry data is contingent upon project approval by the Association for Creatine Deficiencies.