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Section on Neuroadaptation
and Protein Metabolism

FXS Clinical Study

Proteins are basic building blocks of life and are required for memory. Persons with FXS lack a protein called FMRP. FMRP is thought to control the formation of brain proteins. Without FMRP, the brain may not effectively control the formation of proteins. We think that a lack of control of this essential process may be at the core of FXS. We have devised a means to measure protein synthesis with a brain imaging technique called positron emission tomography (PET). Measurement of protein synthesis in patients with FXS promises to further our understanding of this disease and help us to assess the potential effectiveness of new treatments. 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, a night of sleep monitoring, and brain imaging studies: positron emission tomography (PET) and magnetic resonance imaging (MRI). They may be anesthetized throughout the imaging studies to minimize stress.

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Participation in the study will require spending 3-4 days on the NIH campus. We will cover all travel, food, and lodging costs for the patient and accompanying parents and we will compensate for time and inconvenience.

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 email Inna Loutaev or call her at 301-496-4707.