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Autism Speaks Commits $5.2 million Toward Basic Science and Treatment Studies

April 08, 2010

April 8, 2010

Autism Speaks today announced the awarding of 16 new research grants totaling $5,223,743 over the next three years. The new grants will span basic research, which provides the innovative discoveries that form the building blocks of medical breakthroughs, to translational neuroscience research, which further develops these discoveries in animal models, to treatment research, which tests the efficacy of new interventions in clinical populations, to dissemination research, which explores methods for promoting the use of validated treatments in the community. Autism Speaks Chief Science Officer Geraldine Dawson, Ph.D. remarked, “By funding both basic science and applied research, we are making investments in studies with promise for immediate impact as well as in studies that will move the field in new directions for the future.”

Novel directions in early detection of autism

Two studies are focused on developing new methods for very early detection of autism spectrum disorders (ASD). The first will validate a simple questionnaire that can be used by pediatricians to screen for ASD in one year old babies. The second will search for biomarkers for ASD by analyzing blood samples using a newly-developed technology platform called xMAP to identify a panel of proteins that can serve as diagnostic biomarkers for ASD.

From basic neuroscience to targeted treatments for ASD

The first step toward developing targeted biomedical interventions to address core symptoms of autism is to gain knowledge of the underlying biological processes that generate autistic behaviors. Several studies selected for funding provide this opportunity. For example, one of the most direct routes to uncovering the pathology associated with autism is to study brain tissue from individuals with ASD. Using postmortem brain material, one of the studies will systematically investigate the affected brain networks, allowing identification of the cellular and molecular defects that characterize autism. These data will point the way toward biomedical treatments for autism.

Another approach to discovering the underlying biological mechanisms is to study the effects of autism risk genes on biochemical pathways, brain circuitry and behavior in animal models. For example, one study examines the effects of mutations in the SHANK3 gene, which have been found in some individuals with autism. The gene creates a protein involved in synaptic function, disturbances of which are emerging as one of the central themes of autism pathophysiology.

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. One of the funded projects aims 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 whom 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 (read a blog post describing the path to drug discovery from Dr. Dawson). Both are testing whether medications (IGF1 in Rett syndrome and Rad001 in Tuberous Sclerosis Complex) reverse the core ASD symptoms in closely related developmental disorders. In both of these instances, the biological pathways targeted by the drugs have also been implicated in ASD, suggesting that, if successful, these trials stand to serve as proof-of-principle to justify movement into clinical trials in other ASD populations.

These studies are examples of how discoveries made at the molecular level can really be brought to bear on autism treatment,” commented Dr. Dawson. “Our hope is that if these trials with syndromes that are closely related to ASD are successful, we can translate the knowledge gained to treatment studies of individuals with ASD. This is the first step toward developing medicines that target the core symptoms of ASD.”

Another trial will focus on treating anxiety, which affects 1 in 4 affected individuals with ASD. Anxiety can be extremely debilitating for individuals with ASD, and can even hinder their responsiveness to behavioral interventions. Few medications have been tested to treat anxiety. One funded study will examine the ability of the medication Mirtazapine to treat anxiety symptoms in a randomized, placebo-controlled trial in children and adolescents with ASD.

Another new study will focus on understanding sleep disturbances, a challenge that affects many people with autism and their families. This study will examine the nature of sleep disturbances in ASD, using state-of-the-art EEG techniques and also how such disturbances may affect memory consolidation and daily function.

Innovative treatments for adults and nonverbal individuals with ASD

Two additional grants will each focus on novel treatments for understudied ASD populations. Because few interventions are designed with adults in mind, a cognitive enhancement therapy aims to use training and coaching in attention, memory, problem solving and social skills to improve adaptive behaviors in young adults with autism.

Finally, to aid non-verbal individuals, investigators will test a computer program that facilitates speech by providing visual feedback on production, loudness and pitch.

From laboratory studies to community effectiveness

Establishing the efficacy of treatment approaches does not always guarantee that a treatment will be adopted into practice. Barriers to implementation of evidence-based treatments are many. Therefore, the final step in the progression from basic research to improved health services must address how to enhance dissemination of best treatment practices to the autism community. To that end, three of the newly awarded treatment grants will focus on increasing access to interventions. Starting with an empirically validated early intervention known as Pivotal Response Training, one clinical trial will assess the effectiveness and efficiency of providing parent-training in a group rather than an individual format. A second clinical trial addresses the question of access by underserved populations, including families of racial/ethnic minorities, with lower education levels, or in rural locations, using a caregiver-implemented early intervention to examine the factors related to service utilization and satisfaction. Using a unique data resource, a third study will follow up a sample of over 200 adults with autism to understand their current symptoms, together with their needs, gaps and challenges in obtaining services. Finally, this project will also characterize the successes of adults with ASD.

“These types of studies are so important because unless we find a way to facilitate widespread, cost-effective means of bringing treatments and services to our families, we cannot successfully improve the lives of individuals with ASD, which is our mission. Without this last step, we will not have done our job,” concluded Dr. Dawson.

See the complete list of newly funded basic and clinical studies and treatment grants with the abstracts.

Another area of Autism Speaks research funding are studies leading to an understanding of how environmental factors influence risk for autism, and the interaction between genetic susceptibility and exposure to specific environmental factors. A major environmental initiative announced in the past year includes funding of the IBIS and EARLI studies which involve longitudinal studies of over 2,000 babies from early after conception through early childhood. These studies of babies who represent families with more than one individual diagnosed with autism seek to identify, in real time, environmental factors that may be associated with onset of ASD. Through its Environmental Factors Initiative, Autism Speaks is currently supporting a project led by Bruce Hammock, Ph.D. at UC Davis, to study Vitamin D insufficiency in children enrolled in the on-going Childhood Autism Risks from Genetics and the Environment (CHARGE) study. This study will provide a more complete picture of the source of Vitamin D insufficiency, the biological consequences, and the contributions to autism and co-morbid symptoms. The goal is to possibly identify a group of children with ASD who would benefit from Vitamin D supplementation therapy. Learn more about other environmental grants that have been funded.