Coriell Biobanking to support research

Access to CCDS biosamples (i.e. blood, skin cells) are 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 in support of research. Learn more about what this means and how to participate in the blog post, “Coriell Biobanking Opportunity.”

CreatineInfo Patient Registry and Patient-Reported Natural History Study

Patient registries and natural history studies are critical for the development of treatments for CCDS. CretineInfo is the ACD supported patient registry, hosted on the NORD Platform. More information coming soon.

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 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:

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 kvoorhees@ultragenyx.com.

*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.

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.

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.

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.

National Burden of Disease Survey

The National Burden of Rare Disease Study determines the true economic cost of rare disease, as well as increases awareness of the public health crisis of rare disease, inform policy proposals, and improve the lives of patients and their families for decades to come.

Learn more about the survey by clicking here.

Caregiver Questionnaire Study on Developmental Disabilities

The purpose of this research study is to improve our understanding of the nature of adjustments and accommodations exhibited among caregivers of a family member with a developmental disability.

If you are interested in participating in the study or want to learn more about it, please click here.