Non-Drug Research Opportunities

Vigilan CTD Observational Study

This study is an official clinical trial and is explained on our Clinical Trials page.

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


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


  1. 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