Dr. Judith Miller is a clinical psychologist with 25 years’ experience in developmental disorders. She has a joint appointment as Assistant Professor in both the Psychiatry and Pediatrics departments at the Children’s Hospital of Philadelphia (CHOP), which is affiliated with the Perelman School of Medicine at the University of Pennsylvania. She is also the Clinical Training Director at the Center for Autism Research, and the Associate Director for the Leadership in Education in Neurodevelopmental Disorders (LEND) program at CHOP. She has been studying Creatine Transporter Deficiency since 2015 and is the coordinating Principal Investigator for the Vigilan Observational Study.
The Vigilan Observational Study of Creatine Transporter Deficiency is the largest and longest-running natural history study of a creatine deficiency syndrome. Our goals are to study how children with CTD develop over time and to identify the best measures for a future interventional study. We now have nine sites across the US and Canada and are approaching our fourth year, with almost 50 participants completing nearly 200 visits. Children and families have been participating in extensive testing and medical evaluations every 6 months, with an additional visit to the National Institutes of Health (NIH) in Washington DC for imaging and other biomarker studies. While the study is still ongoing, we now have sufficient data to examine how children with CTD develop over time, including the earliest symptoms that led to a CTD diagnosis, as well as the children’s cognitive and intellectual development, self-help skills, behavior, and co-occurring medical conditions. Dr. Miller will present the preliminary findings, discuss what we’ve learned so far, and outline how it will inform the next steps for the Vigilan study.
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