Autism Research Studies at Stanford
Study Title/ Age
GABAergic Neurophysiology in Autism Spectrum Disorder
In current clinical practice, diagnosis of autism spectrum disorder (ASD) is performed by identification of behavioral and cognitive symptoms, and treatments for ASD are completely empirical. Identification of specific molecular abnormalities (related to a the major inhibitory neurotransmitter GABA) in targeted brain networks, as is proposed, would allow for better assessments of abnormalities of brain circuits associated with the cognitive-behavioral deficits, and more rational and effective development of interventions that are based on molecular abnormalities in specific brain networks. Therefore, the proposed work in molecular neuroimaging in individuals with ASD will help the field to depart from the symptom-clustering approach in diagnosis and empirical approach in treatments, and move toward more mechanism- and biomarker-based diagnostic and intervention strategies.
ICATS- Imaging California Autism Twin Study
Stanford University researchers are currently recruiting same-sex twin pairs with autism and twin pairs without autism (i.e. typically developing) to participate in a research study. The study compares twins with Autism Spectrum Disorder to typically developing twins so we can better understand the causes of autism.
Metabolomic Study of Neurodevelopmental Disorders
The purpose of this research study is to investigate and establish the
biology of neurosteroids as a possible biosignature for social anxiety and other
neuropsychiatric symptoms in individuals with autism spectrum disorder (ASD) and other neurodevelopmental disorders. Neurosteroids are endogenous hormones that have multiple biological functions, including the regulation of the Hypothalamus-Pituitary-Adrenal (HPA) axis. This study will investigate the biology of neurosteroids in ASD and other neurodevelopmental disorders by a metabolomic approach. This is a novel approach that recognizes the patterns of changes of multiple endogenous substances using advanced analytical methods.
Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations
The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately effective interventions for autism spectrum disorder. Individuals between the ages of 3 and 21 years are eligible to participate if they have been diagnosed with PTEN hamartoma tumor syndrome or autism spectrum disorder with macrocephaly. The study involves five visits over a two year period. Three of the visits occur on-site at a study location. The other two visits occur as phone calls. The on-site visits include a blood draw, physical/neurological exams and behavioral testing.
Clinical Trial of Everolimus in Children and Adolescents with PTEN Mutations
Phosphatase and TENsin homolog (PTEN) gene mutations (mistakes in the gene) are associated with neurocognitive deficits, intellectual disability, autism symptoms, skin lesions, macrocephaly (large head size), overgrowth of tissues, and an increased risk of cancers. Investigators are conducting research to evaluate the potential safety and efficacy (effectiveness) of the drug, RAD001 (everolimus), in patients with PTEN Hamartoma Tumor Syndrome, and the potential neurocognitive benefits from treatment with RAD001 or placebo for a six month period. The investigators hope this trial will lead to a better understanding of PTEN and to new forms of treatment that may benefit children and adults with PTEN in the future.
Pivotal Response Treatment Package for Young Children with Autism
1.5 - 5 years
This is a research study examining the effectiveness of pivotal response treatment in targeting language skills in young children with autism.
Pregnenolone Randomized Controlled Trial
14 - 21 years
Neurosteroid Pregnenolone Treatment for Irritability in Adolescents with Autism
Medication treatments for core symptoms of autism spectrum disorder (ASD) continue to be unmet medical needs. The only medications approved by the U.S. Food and Drug Administration (FDA) for the treatment of individuals with ASD are effective in treating irritability and associated aggressive behaviors, but these medications can also cause severe long-term side effects such as diabetes and involuntary motor movements. Therefore, effective medications with more tolerable side effect profiles are highly desirable. This profile is consistent with pregnenolone (PREG). PREG belongs to a new class of hormones known as neurosteroids, which have been shown to be effective in treating various psychiatric conditions including bipolar depression and schizophrenia. As compared to currently FDA-approved medications, our preliminary data suggested that PREG may represent a potentially effective and well-tolerated agent for treating irritability in individuals with ASD. In addition, our experience suggests that PREG might be helpful in improving selected core symptoms such as social deficits and sensory abnormalities of ASD. This study provides the opportunity to further explore the usefulness of PREG in the treatment of irritability and some core symptoms of ASD. We are performing a 12-week randomized double-blind controlled pilot trial to examine the effectiveness of orally administered PREG in reducing irritability and associated behaviors in adolescents with ASD. In this study, we also aim to examine the usefulness of biomarkers (blood levels of neurosteroids, eyetracking and brain wave recording) in predicting treatment response and assessing biologic changes with PREG treatment.
The Role of Vasopressin in the Social Deficits of Autism
Researchers at the Stanford University School of Medicine are seeking participants for a study examining the effectiveness of vasopressin, a neuropeptide, in treating children with autism spectrum disorder.
Sensory Processing in Developmental Disorders
Stanford Psychology and the Autism and Developmental Disorders Research Program are working together to better understand how children with developmental disorders process sensory information. We expect that this work will provide clues about developmental disorders and will help the design of diagnostic and therapeutic tools. Our study involves two or three visits to our lab on campus. We will show participants pictures (stripes, patterns, objects, or faces) on a computer monitor and present sounds while we measure brain-waves. Parent interviews and clinical assessments will also be part of the study. The entire procedure is non-invasive and safe, and all participantsâ€™ information will be kept confidential. We are currently recruiting children with ASD, ADHD and typical developing children between 4 and 9 years of age.
Parent Training to Enhance Social Success for Children with Autism Spectrum Disorder
Children with autism spectrum disorder (ASD) exhibit characteristic deficits in social initiation and there are few empirically validated treatments specifically for this core deficit. While parent training is known to be a critical intervention component, few social skills programs involve parents. This study will capitalize on an existing social skills group already established at the community agency Abilities United, with the goal of enhancing the program’s effectiveness by adding a parent component. Specifically, the proposed study will investigate whether a novel parent-mediated social skills program (Social SUCCESS), which provides parent training in conjunction with a social skills group intervention, will result in more frequent initiations during play with typically developing peers. We are currently recruiting verbal children with Autism Spectrum Disorder, aged 4:0 to 6:11 years, who have average to above average cognitive ability. Children will be randomly assigned to either Social SUCCESS or waiting list. Treatment will be provided for 12 weeks and include participation in a social skills group and a separate parent training group. The study will evaluate the effects of Social SUCCESS on areas of core social deficit including frequency of peer initiations using parent ratings, observational
measures, standardized questionnaires, and a social eyetracking task. Outcomes will be compared to a waiting list control group. Findings will aid clinicians in providing more effective social skills treatment for children with ASD and enhance the scientific knowledge-base related to evidence-based social skills treatments.
Stanford Stem Cell Study
If you or your child have been diagnosed with an Autism Spectrum Disorder (ASD) you may be eligible to participate in a Stanford University research study focused on producing disease-specific stem cell lines to assist in medical research. Healthy children may also be eligible to participate.