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| Dysregulation of protein synthesis is very likely close to the underlying etiology of symptoms of FXS. Measurement of rCPS in patients with FXS promises to provide an objective clinical endpoint for assessment of efficacy of proposed treatments. We are now testing this possibility in FXS patients with the L-[1-11C]leucine positron emission tomography (PET) method [1]. These studies are conducted in collaboration with the NIH PET Department and the NIH Department of Anesthesia and Surgical Services. If your son has the full fragile X mutation and is between the ages of 18 and 24 years he may be eligible to participate in our research study. |
| Participants will undergo psychological testing and two brain imaging studies: one Positron Emission Tomography (PET) scan and one magnetic resonance imaging (MRI) scan. They may be anesthetized throughout the imaging studies to minimize stress.
Participation in the study will require spending 2-3 days on the NIH campus. We will cover all travel, food, and lodging costs for the patient and accompanying parents. |
 MRI and PET images of 21 year old male |
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Your participation in the study will further our understanding of FXS, ultimately leading to new treatments. To find out if you qualify or for more information, please call Dr. Zametkin at 301-496-4707 or Email Dr. Zametkin. |
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Acknowledgement: This work is supported, in part, by the Fragile X Research Foundation. References: [1] Bishu S, Schmidt KC, Burlin TV, Channing MA, Conant S, Huang T-J, Liu Z-H, Qin M, Unterman A, Xia Z, Zametkin A, Herscovitch P, Smith CB. Regional rates of cerebral protein synthesis measured with L-[1-11C]leucine and PET in conscious, young adult men: normal values, variability, and reproducibility. J Cereb Blood Flow Metab 2008, 28:1502-1513 [pdf]. (return to text) |
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