Participate in Research

Broad Impact Research Opportunities

The ACD is committed to open data-sharing and collaborative research efforts. These initiatives support and are critical to multiple researchers understanding Cerebral Creatine Deficiency Syndromes (CCDS).

  1. Coriell Biobanking to support research

    Coriell Biobanking to support research

    Access to CCDS biosamples (i.e. blood, skin cells) is one of the key needs of the research community. The Association for Creatine Deficiencies is excited to partner with Coriell, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with CCDS and their families in support of research. Watch an informative webinar about what this means and how to participate by visiting the blog post, “Coriell Biobanking Opportunity.”

  2. CreatineInfo Patient Registry and Patient-Reported Natural History Study

    CreatineInfo Patient Registry and Patient-Reported Natural History Study

    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. Join the registry at – For more information visit or contact

Third-Party Research Opportunities

  1. Ultragenyx Interview Study For Caregivers of Individuals Who Have a Diagnosis of CTD

    Are you the caregiver of an individual with CTD?
    Clinical Outcomes Solutions (COS), a healthcare research consultancy, is
    conducting an interview study to better understand the symptoms, and impacts on quality of life, experienced by individuals diagnosed with CTD. The study is conducted on behalf of our sponsor, Ultragenyx, a pharmaceutical company.
    If you are at least 18 years of age and a primary caregiver to an individual with a diagnosis of CTD, you may be eligible to participate. Eligible individuals will be invited to an interview with a trained researcher, conducted via telephone or video-conference software, to discuss their experiences of CTD. The interview will be audio recorded and the total time commitment is approximately 75 minutes.
    Participants will also be asked to complete a few short forms and confirm the diagnosis of the person they care for. Participants will be compensated for their time.
    This research is confidential. Any contact information you provide will only be used for the purposes of compensation and scheduling the study activity if you take part. All other data will be coded with a number and you, and the person you care for will not be identified in any publications. You will be asked to provide consent to allow us to collect this information.
    If you are interested in learning more about the interview study and to see if you are eligible to participate, please contact Natasha, COS Study Coordinator, at 520-325-9510 or

*The ACD does not endorse or recommend participation in any specific clinical trials. Third-Party surveys do not contribute to the data in the ACD Patient Registry.

Clinical Drug Trials

There are no CCDS drug trials currently being conducted. To learn about current CCDS research visit our ACD Research Strategy page and Pharma Updates page.