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”.
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.
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 ClinicalTrials.gov listing here.
This is a multiple-site study that intends to enroll 50 males with CTD. The study currently has sites open at:
Questions and answers to help participants understand more about the 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.
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.
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:
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.
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 firstname.lastname@example.org.
*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.
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.
*These surveys do not contribute to the data in the ACD Patient Registry.
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.
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