CCDS are rare disorders. Many researchers have very few to no CCDS patients in their clinics and need an accurate and robust data set to draw upon. The registry allows meaningful correlations to be found across many patients in an otherwise difficult to study disease group. Sharing your data with the registry means researchers can be successful. The registry allows CCDS patients and families to share valuable information in an international, confidential, and safe database. It is also the primary registry for creatine deficiencies.

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

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

1. Visit creatineinfo.iamrare.org and click “Register” under “Join the Registry.” You may need to first click “Accept Cookies.”
2. Create an account. With one account, you can add multiple participants (CCDS patients), as needed. Each participant will have their own surveys to take.
3. Provide consent for your participation and begin completing the registry surveys.

The CCDS patient is considered the “participant.” Caregivers completing surveys on behalf of the participant are called “respondents.” Caregivers will first need to create a registry account using their own information as the caregiver. Then, caregivers will add each CCDS patient as a participant to their account.

Yes, ACD launches approximately 2-3 new surveys in the registry each year. When a new survey becomes available, log into your registry account at creatineinfo.iamrare.org and complete any available surveys. We encourage you to complete surveys as soon as they become available so that your data is included in any reports. Some surveys are longitudinal, which means you will be asked the same questions every 6-12 months. You will receive an email when it is time to complete one of these surveys.

Enrolled patients and caregivers will see a number of short surveys available for them to complete. Each survey typically takes approximately 15-20 minutes to complete. Data collected in these surveys includes diagnosis and treatment, disease management, quality of life, and longitudinal information about CCDS. There is also a place to upload genetic reports and other medical reports.

Caregivers can create one registry account and add multiple participants (CCDS patients) to their account. Each participant will need their own set of surveys completed.

At this time, only one caregiver should create a registry account and complete surveys on behalf of the CCDS patient(s).

Many registry surveys are developed by ACD in collaboration with research partners, clinical professionals, and CCDS families. Each of these collaborators ensure the surveys are using family-friendly language, the topics are appropriate, and the survey questions are scientifically sound. Where appropriate, scientifically validated surveys that already exist and are well-accepted by the scientific community may be used in the registry.

ACD collaborates with researchers to share de-identified data to advance CCDS research and support development of possible treatments. Examples of this research may include assessing different genetic variants and their related symptoms, monitoring how the disorders progress over time, and supporting clinical treatment development. ACD will never share any personally identifying information entered into the registry. This includes first names, last names, and contact information.

Currently, only patients and caregivers of individuals diagnosed with a CCDS are eligible to participate in this registry. If you are working on a diagnosis and would like support, please email registry@creatineinfo.org.

Responsibilities:
Discuss direction and goals of the registry and natural history study
Recommend possible surveys
Current Members:
ACD Board of Directors
Heidi Wallis, ACD Executive Director & Principal Investigator
Sangeetha Iyer, ACD Scientific Advisor
Emily Reinhardt, ACD Registry Coordinator

Responsibilities:
Set up registry, approve changes (IRB, protocol, consents)
Ensure limited direct data access (currently PI, registry coordinator, and ClinGen)
Review registry report proposals and what de-identified data will be included in any reports created
Current Members:
ACD Board of Directors
Heidi Wallis, ACD Executive Director & Principal Investigator
Sangeetha Iyer, ACD Scientific Advisor
Emily Reinhardt, ACD Registry Coordinator

Responsibilities:
FAB-Development (FAB-D): Review content and family-friendly language of surveys and materials
FAB-Localization (FAB-L): Review translations and accessibility of surveys and materials
Current Members:
FAB-D:
Unlisted
FAB-L:
Recruiting

North Star Review Board serves as the independent IRB for the CreatineInfo Registry, providing ethical oversight and ensuring federal and institutional compliance of all human research conducted within the registry.

The registry is hosted on the NORD IAMRARE® platform, which was developed with extensive input from experts at the National Institutes of Health (NIH), patient advocacy groups, and the U.S. Food and Drug Administration (FDA). The CreatineInfo Registry and Natural History Study is a secure platform, compliant with:

• U.S. health information privacy laws (HIPPA, HITECH, and FISMA)
• State privacy laws (where applicable)
• FDA regulations on electronic records (21CFR Part 11)
• European Union Data Protection Directive and General Data Protection Regulation (GDPR)

To de-identify data, all protected health information (PHI) is removed. ACD follows the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule to define PHI. As we are a rare community, we also follow the cell size suppression policy as defined by the U.S. Department of Health and Human Services.

Direct data access is limited to the registry coordinator, the registry principal investigator, and ClinGen (when permission is granted). Requests for registry data must be approved by the Registry Oversight Board. Data sharing guidelines are outlined in the registry protocol, which has been reviewed and approved by the IRB. Any data reported are anonymous (de-identified) and aggregated (combined and summarized) with data from other registry participants.

ACD works with the Clinical Genome Resource (ClinGen) Patient Data Sharing Program to give registry participants the choice to share their de-identified and pseudonymized genetic and health data. ClinGen is a National Institutes of Health (NIH)-funded project aiming to define the impact of genes and genetic changes on health. You can view the consent form here.

Custom registry surveys and access to de-identified data may be possible through a partnership with ACD. Please contact us for more information.

The registry may facilitate collaboration between clinicians and industry partners, and assist in recruitment of participants for clinical trials. If industry partners wish to contact patients and families for clinical trials, ACD may contact those families on their behalf. ACD does not release personally identifiable information, including contact information, on any of its participants and their families.

Protocol
Consent forms (adult, legally authorized representative)