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 creatineinfo.iamrare.org – For more information visit creatineinfo.org/creatineinfo-registry or contact registry@creatineinfo.org

Third-Party Research Opportunities

  1. fNIRS Endpoint Investigation

    fNIRS Endpoint Investigation

    ACD is making progress to prepare our community for potential clinical trials. We have partnered with Drs. Laura Baroncelli, Irina Anselm, and Michela Fagiolini to launch a study site in 2024 at Boston Children’s Hospital and Harvard Medical School. The study will be investigating the ‘fNIRS’ technology, ‘fNIRS’, and measuring correlations between fNIRS data and cognitive function in CCDS patients. The objective is to determine if fNIRS can function as a non-invasive biomarker for CCDS clinical trials.

    We thank the Ludwick Family Foundation for supporting this project. More information will be available soon.

    Learn more: Watch the International CCDS Day presentation on fNIRS at Boston Children’s Hospital

  2. NIH CTD Facial Feature Study

    NIH CTD Facial Feature Study

    Information from the NIH Recruitment Flyer:

    “If your son took part in the Vigilan study, we would like your help.

    CTD patients appear to have similar head and facial features and researchers at the NIH would like to investigate this further. The results of this type of study may help researchers better understand CTD as well as clinicians recognize and diagnose CTD patients more quickly.

    Participation is as simple as consenting to the study protocol and providing photos of your son for inclusion in the study.

    For more information, please contact:
    john.perreault@nih.gov
    (301) 827-9235
    NIH IRB# 0001074”

*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.