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.
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.
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:
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 Depolo@email.chop.edu. Thank you for your interest in CTD research! We appreciate your time and consideration.
Judith Miller, PhD
Clinical Training Director, Center for Autism Research
The Children’s Hospital of Philadelphia