While development of animal models is one of the key steps required for researchers to create and validate ideas for new treatment approaches, the field is also exploring biological measures that can empirically test the effects of a biomedical treatment on brain function. Association of Cholinergic System Dysfunction with Autistic Behavior in Fragile X Syndrome: Pharmacologic and Imaging Probes (Allan Reiss, M.D., Stanford University) will be the first to demonstrate the effects of a biomedical treatment (Donepezil) on brain function using functional magnetic resonance imaging (fMRI). This study will be conducted with individuals with Fragile X syndrome, approximately one third of who have a diagnosis of autism. If the study is successful, the technique can then be used in a wide range of treatment studies.
One of the most exciting findings in the past few years is the discovery that, in an animal model, it is possible to reverse some of the symptoms of ASD using biomedical interventions. Using information gained through studies of genetics and animal models, novel drug intervention strategies have been developed and are now ready to move into the human clinical trial phase (for more information about the path to drug discovery click here). Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation with IGF-1 (Omar Khwaja, M.D., Ph.D., Harvard Medical School/Children's Hospital Boston) will test whether the medication IGF1 can reverse the core ASD symptoms found in Rett syndrome. Randomized Phase 2 Trial of Rad001 (An Mtor Inhibitor) in Patients with Tuberous Sclerosis Complex (Mustafa Sahin, M.
|Contact: Jane E. Rubinstein|