Patient Registry

CreatineInfo 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. 

This new registry will allow CCDS families to share valuable information in an international, confidential, and safe database powered by NORD.

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.

What is the CreatineInfo Registry?

The CreatineInfo Registry is a tool for furthering research and empowering the Cerebral Creatine Deficiency Syndromes (CCDS) community.

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.
I already participated in an ACD Patient Registry (before February 2021).  Is this a different registry?

Yes, this is a new registry. 

Thank you for participating in the previous ACD Patient Registry. Your information cannot be transferred to the new registry, as this is another kind of study gathering different information.

The new CreatineInfo Registry is a Natural History Study. Natural History Studies are longitudinal studies that aim to fill research gaps by helping medical researchers better understand how diseases progress over time.

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 

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!

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

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