Non-Drug Research Opportunities

Current Opportunities to Support Research

  1. Coriell Biobanking

    CCDS Biobanking with Coriell

    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 Cerebral Creatine Deficiency Syndromes in support of research.
    Learn more about what this means and how to participate in the blog post “Coriell Biobanking Opportunity”.

  2. CTD Survey

    Survey Research in Creatine Transporter Deficiency

    Ultragenyx is conducting a survey to better understand CTD from the perspective of the parent/caregiver. This survey asks questions about the path to diagnosis, symptoms and conditions associated with CTD and how they have affected your child’s life in areas such as communication, cognition, behavior, and movement, as well as the impact the disease has on the daily life of both you and your child.
    The data collected from this survey will help researchers, doctors and other people involved in the CTD community to understand the way your child feels and functions and what matters most to you in terms of a potential treatment. This information will be made available to the patient, medical, and scientific communities and to anyone interested in learning more about the disease, including those interested in pursuing a potential treatment for CTD.
    Click here to learn how to participate.

  3. Vigilan Observational Study

    Observational Study of Male CTD Patients:

    New clinical study opens to learn more about rare x-linked pediatric neurodevelopmental disease: Creatine Transporter Deficiency (CTD).
    This multi-year observational clinical study of males with Creatine Transporter Deficiency (CTD) is currently recruiting individuals to participate. View the listing here.

    This is a multiple-site study that intends to enroll 50 males with CTD. The study currently has sites open at:

      • Children’s Hospital of Philadelphia – Philadelphia, Pennsylvania
      • National Institutes of Health – Bethesda, Maryland
      • Duke University Medical Center – Durham, North Carolina
      • Rush University Medical Center – Chicago, Illinois
      • University of California, San Diego – California
      • Boston Children’s Hospital – Boston, Massachusetts
      • Texas Children’s Hospital – Houston, Texas


    Questions and answers to help participants understand more about the study:

    What is an observational study?

    An observational study involves following and collecting information on people with a particular disease or health condition over a period of time. At specified times, researchers record information about study participants based on what they see and hear and what they learn from tests. In this way, researchers can learn more about the basic biology of a disease. An observational study also helps researchers understand how disease symptoms and behaviors change over time.

    Participants do not receive treatment during the study.

    Observational studies are a very important step toward finding effective disease treatments. Study findings provide a solid foundation for the design of clinically meaningful trials where a treatment is proposed.

    Why participate in a CTD observational study?

    Creatine Transporter Deficiency (CTD) was first identified in 2001. The condition is rare so it hasn’t received as much attention or investigation as other more common health problems.

    To date, there have been few published studies where researchers have looked at how the disease develops over time without any treatment. This is one of the challenges of finding an effective medication for CTD—a challenge shared by researchers working to find cures for many rare diseases. Without information about how a disease progresses, researchers cannot know how to test a new drug to find out if it actually leads to improvements in people’s functioning.

    This observational study will give researchers a better understanding of the clinical signs and symptoms of CTD, including behavior and intellectual and physical development of males over a 2-year period. By participating, you and your child will do the following:

        • Receive important and detailed health information about your child’s CTD from comprehensive work-ups and tests that are conducted in university- associated clinical settings with medical experts
        • Speed up efforts to find an effective treatment for CTD
        • Become even a stronger patient advocate for your child and join the CTD scientific and patient family

    What exactly will this study involve?

    Males signed up to participate will undergo a clinical evaluation at a university clinic to determine if they are eligible to participate in the study. If eligible, and once enrolled in the study, participants will undergo a series of tests of physical and intellectual abilities. Follow-up testing will occur at the test site every 3 months. In addition, parents or caregivers will receive a phone call every 2 months so researchers can keep track of any changes you may notice in your child’s health and behavior.

    Who is eligible to participate?

        • Males diagnosed with CTD by a healthcare professional based on genetic tests showing a mutation in the SLC6A8 gene

    Who cannot participate?

        • Males with a history of status epilepticus [seizures lasting longer than 5 minutes or occurring so close together that the person does not recover between seizures] in the 3 months before the study begins
        • Children or parents/caregivers who for other reasons are unable to carry out procedures the study involves

    I’d like to sign my son up but we probably live too far away from the test sites.

    Travel stipends may be available for study participants who need them.

    If you believe your child may qualify to participate, please contact Kristen Voorhees at

    *The ACD does not endorse or recommend participation in any specific clinical trials.
    **For updates on the Vigilan Study, visit our CCDS Research Updates page.

  4. Ultragenyx CTD Advisory Board

    Share Your Experience with Creatine Transporter Deficiency

    If you are a parent or caregiver of someone with CTD, choosing to tell your story is one of the most powerful ways to advocate for yourself and the community. Join Ultragenyx Pharmaceutical for an advisory panel discussion about your experiences with CTD.

    Learn more about the advisory board and how to participate by clicking here.

Survey Opportunities Outside of Patient Registry

*These surveys do not contribute to the data in the ACD Patient Registry.

  1. Sarah Lawrence College Rare Disease Patients Study

    Sarah Lawrence College Rare Disease Patients Study

    Students from the Human Genetics Program at Sarah Lawrence College are surveying patients with a rare disease diagnosis to better understand how they receive primary care services.
    If you’re interested in participating in this survey, click here.

Previous Studies Archive

  1. Mayo Bloodspot

    Mayo Newborn Bloodspot Project

    The Biochemical Genetics Laboratory is currently seeking volunteers to participate in an important study involving newborn screen testing for Cerebral Creatine Deficiency Syndromes (CDS) at the Mayo Clinic.

    Dr. Matern


  2. CHOP Study

    CHOP Creatine Transporter Deficiency (CTD) Study

    The Children’s Hospital of Philadelphia is conducting a study to help researchers learn more about children with Creatine Transporter Deficiency (CTD).

    To participate, contact:

    Lauren DePolo


  3. CTD CHOP Study Flyer


    Dear Family,

    You are invited to participate in a study to help researchers learn more about children with Creatine Transporter Deficiency (CTD). We want to determine which tests and questionnaires are best to understand more about children with CTD. These tests and questionnaires may then be used in future studies.

    Parents of children ages 3-17 with CTD are eligible to participate in a study that can be completed in your home – no travel is required. Parents will be asked to complete a phone interview, as well as several questionnaires about their children’s behaviors, and one questionnaire about themselves. These questionnaires can be completed online or on paper. We also ask that parents send us home videos of their children, if available, so we can observe their movements and behaviors.

    Families who live close to the Children’s Hospital of Philadelphia may be invited to an in-person study visit. The visit will involve behavioral testing and motor activities and will last about 4-6 hours.

    For both parts of the study, families will be compensated for their time.

    If you are interested in taking part or have questions about the study, please contact Lauren DePolo at 267-426-1472 or email her at Thank you for your interest in CTD research! We appreciate your time and consideration.

    Best regards,

    Judith Miller, PhD
    Clinical Training Director, Center for Autism Research
    The Children’s Hospital of Philadelphia