Patient Registry

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Fall 2022 Update
2023 Poster

What is the CreatineInfo Registry?

The CreatineInfo Registry is a Patient-reported Registry and Natural History Study created by ACD and hosted by NORD (the National Organization for Rare Disorders) 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.

Frequently Asked Questions

  1. Who Can Participate?

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

    • Creatine Transporter Deficiency (CTD)
    • Guanidinoacetate Methyltransferase Deficiency (GAMT) 
    • Arginine: Glycine Amidinotransferase Deficiency (AGAT)

  2. 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.

If you have any additional questions, please email registry@creatineinfo.org or fill out the form below. The Registry Coordinator will follow up with you promptly.

Have questions? Contact Emily!

I am the Patient Registry Coordinator for ACD. I am here to assist you!