Patient Registry

CreatineInfo Registry

New registry! The ACD is proud to partner with the National Organization for Rare Disorders (NORD) to provide a new Natural History Study (NHS) Patient-reported Registry for CCDS. 

If you joined a CCDS registry in the past (before March 2021), please note this new registry is a different study gathering different information, and previously recorded data cannot be transferred from one registry to the other.
Please join the new registry. This new registry will allow CCDS families to share valuable information in an international, confidential, and safe database powered by NORD.
What is the CreatineInfo Registry?
The CreatineInfo Registry is a Patient-reported Registry and Natural History Study created by ACD and hosted by NORD for furthering research and empowering the Cerebral Creatine Deficiency Syndromes (CCDS) community.
This new registry is a Natural History Study that will allow CCDS families to share valuable information in an international, confidential, and safe database, and will be the primary registry for Creatine Deficiencies.
Natural History Studies are longitudinal studies that aim to fill research gaps by helping medical researchers better understand how diseases progress over time.
Why join the CreatineInfo Registry?

There are many advantages to joining the registry. The CreatineInfo Registry aims to: 

  • Improve understanding of the natural history and impact of CCDS in patients’ lives.
  • Provide valuable information to doctors and scientists to help them develop treatments and improve patient outcomes.
  • Assist ACD with representing the CCDS community accurately.
  • Share community-reported recommendations and standards of care.
Who can participate?

This registry is for all CCDS patients worldwide. Patients or caregivers with the following CCDS diagnoses can participate in this registry:

  1. Creatine Transporter Deficiency (CTD)
  2. Guanidinoacetate Methyltransferase Deficiency (GAMT) 
  3. Arginine: Glycine Amidinotransferase Deficiency (AGAT)
How do I register?

Registration is done online at creatineinfo.iamrare.org beginning March 15, 2021.

Getting started involves a few simple steps:

  1. Visit creatineinfo.iamrare.org and click “Register” under “Join the Registry”
  2. Create an account. With one account, you can add multiple participants, as needed. Each participant will have their own surveys to take.
  3. Provide consent for your participation and start completing the registry questionnaires.
We are on this journey together!

When patient stories come together, they have the power to improve understanding of rare diseases, like CCDS, and to further research into new and better treatments that can change lives

If you have any questions, we are here for you.

Contact [email protected], and the Registry Coordinator will follow up with you promptly.