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.
Cerebral Creatine Deficiency Syndromes (CCDS) are a group of inherited metabolic disorders including Guanidinoacetate Methyltransferase Deficiency (GAMT), Arginine-Glycine AmidinoTransferase (AGAT) and Creatine Transporter Deficiency (CTD). Creatine is an essential energy shuttle in the brain. 50% of creatine is synthesized in the kidney and liver and the remaining is from diet. Onset of symptoms ranges from the first few months of life up to two years of age. There is a lag between onset of symptoms and confirmation of diagnosis up to 5-7 years. CCDS are severely under-diagnosed due to lack of awareness and availability of clinical diagnostic tests in every center. It is estimated that nearly 1% of all X-linked intellectual disability is due to creatine transporter deficiency, one of the three CCDS.
Who is the ACD?
The ACD was established in 2012, by parents with children diagnosed with one of the Cerebral Creatine Deficiency Syndromes.
The ACD’s mission is to provide patient, family, and public education, to advocate for early diagnoses, and to promote and fund medical research for treatments and cures for CCDS.
Learn more about the ACD at creatineinfo.org
What is the CreatineInfo Registry?
The CreatineInfo Registry is a tool for furthering research and empowering the Cerebral Creatine Deficiency Syndromes (CCDS) community.
Who can participate?
This registry is for all CCDS patients worldwide. Patients or caregivers with the following CCDS diagnoses can participate in this registry:
Why should I join?
There are many advantages to joining the registry. The CreatineInfo Registry aims to:
Why is an international Patient Registry for CCDS patients important?
Patient registries are powerful for rare diseases like CCDS. They provide patient information and medical data that allows researchers to more accurately estimate both the prevalence and incidence of a disease, to determine the natural history or typical progression of symptoms, and to focus research on disease-specific questions.
The CreatineInfo Registry gathers patient-reported data from patients worldwide in one secure database powered by NORD.
Due to the low prevalence of CCDS patients, compiling all patient records into one international patient registry is much more useful for research than having several different national registries.
What types of data will be collected in the CreatineInfo Registry?
The CreatineInfo Registry collects data on the following topics:
How is the information used?
All information is de-identified. This means that your personal information (such as name and contact information) is not shared. De-identified datasets or dataset statistics are shared with interested researchers upon approval. Diseases statistics are also disseminated to the physician and parent community to educate and raise awareness about the conditions using ACD communication channels. Genetic and health pseudonymized information can also be shared with publicly available databases including ClinVar, a free database funded by the National Institute of Health (NIH) that reports genomic variations and their relationships to human health.
Please be sure to carefully read the informed consent document before agreeing to participate in the registry. This document contains detailed information on how registry data will be collected, stored, and used.
How is patient privacy protected?
The CreatineInfo Registry follows strict government guidelines to assure patient information is protected. The registry platform is served over HTTPS, providing secure encryption of traffic. Communication between the registry platform application server and the database is also encrypted.
For additional information or inquiries, please contact us at email@example.com
Thank you for your interest in this registry. We hope you can join us on this journey towards furthering research and a better quality of life for all CCDS patients.