The Carolina Institute for Developmental Disabilities (CIDD) at the University of North Carolina at Chapel Hill and the Center for Interdisciplinary Brain Sciences Research (CIBSR) at Stanford University would like to inform you of an exciting new research project involving families who have a child diagnosed with Fragile X syndrome. This innovative, five-year, NIMH funded research project was awarded $5 million in funding in the fall of 2012 and the study is now underway.

The multi-center study involves the close collaboration of two sites: University of North Carolina at Chapel Hill, and Stanford University in Palo Alto, CA. At UNC, the lead investigator is Joseph Piven, MD.  Dr. Piven is an expert on autism, neuroimaging, genetics, intellectual disability, and developmental disorders including but not limited to Fragile X syndrome. His research interests include structural MRI, as well as diffusion tensor imaging of the developing brain in autism and Fragile X particularly as it relates to development and function. At Stanford, Allan Reiss, MD, is the lead investigator. Dr. Reiss has worked extensively with individuals affected by Fragile X syndrome for over 30 years as well as other neurogenetic and neurodevelopmental disorders. His research is focused on determining how genetic and environmental factors affect brain structure and function, and how this ultimately impacts the development and function of persons with these disorders.  A particularly important focus of this work is identifying gene-environment-brain-behavior interactions that have relevance to the development of more specific and effective interventions.

The current project is a continuation of an initial study of infants and preschoolers with Fragile X syndrome where our research groups identified patterns of early abnormal brain growth in children with Fragile X syndrome who were between the ages of 1 to 6 years. The new study will follow up with the children from the initial study, who are now between the ages of 8 and 14, as well as enroll a group of new participants between 4 and 9 years of age. The results of this study will have important implications for current and future treatment trials directed at reducing symptoms in individuals affected by Fragile X.

Families enrolled in the study will travel either to Chapel Hill, NC, or Palo Alto, CA, for a comprehensive series of developmental assessments.  During the visit each child will also receive an MRI scan either awake, during natural sleep, or with the use of sedation depending on parents’ preference and the child’s capabilities. New participants will make a total of 2 trips to the respective study site approximately 2 years apart (e.g. visits at 4 and 6 years of age). There is no cost for participation as all travel and lodging costs are reimbursed by the study, and all services the study provides are at no charge to the family. In addition, families will receive feedback on the developmental assessments and MRI scan.

For more information, please contact either:

Heidi Bryant

Soujanya Gade

Stanford IRB Protocol #11955
UNC IRB Protocol #02-1194

Originally posted Oct, 2013, updated March, 2015.