Principal Investigator: Jyonouchi Harumi, MD

Faculty, Department of Pediatrics
Clinical Professor of Pediatrics, Rutgers-RWJ, Saint Peter’s University Hospital 

Study to characterize the immunology of autism: 

To characterize altered innate immune memory (IIM) in individuals with autism who have clinical features possibly related to immune responses. Secondly, to test if serum levels of select microRNAs (miRNAs) can serve as biomarkers of altered IIM in ASD.

Budget: $100,000

Principal Investigator: Dr. Paul Ashwood, PhD

Institutions: M.I.N.D. Institute, UC Davis Institute

Understanding the cellular differences in intestinal epithelium in autism and controls; constructing a biobank of intestinal organoids.

In this study, we will create patient-specific 3D-cell-culture models of the intestine — intestinal organoids, that recapitulate the structure and function of the intestinal stem-cell niche in ASD and typically-developing (TD) children. Along with individualized transcriptomic analysis of cellular pathways specific to each individual in our study, we will investigate therapeutic conditions that might ameliorate ER stress in the gut.

Budget: $80,000

Principal Investigator: Dr. James Adams, PhD

Institutions: Arizona State University, Wake Forest Institute and  UC Davis Mind Institute

MTT(Microbiota Transfer Therapy) for individuals with autism, with extensive testing 

A study of MTT for children with ASD, with an extensive evaluation of the participants.  This would include pre and post endoscopies (upper and lower, including biopsies and pill camera), and extensive evaluations of GI symptoms, ASD symptoms, microbiome, metabolomics, immunology, immuno-histochemistry, mitochondrial function, and gene expression.

Impact:  This study will provide much deeper, multi-disciplinary insight into the pathophysiology of autism, and a much richer assessment of the full effect of MTT on their physiology and symptoms.  The study will attempt to characterize GI diagnostic subgroups to determine who is mostly likely to benefit from MTT.

Budget: $80,000

Principal Investigator: Sarkis Mazmanian, PhD

Luis & Nelly Soux Professor of Microbiology Investigator, Heritage Medical Research Institute Division of Biology and Biological Engineering, California Institute of Technology

Exploring the contribution of the gut microbiome in an established mouse model of ASD to identify changes in neurotransmitter release, immune responses, and GI function

Testing the contributions of the gut microbiome to GI function may advance our knowledge into potential causes for intestinal issues and possibly altered behavioral patterns. Understanding the biology for how the gut impacts disease-relevant outcomes in a mouse model of ASD promises to be an important step toward developing safe and effective therapies for ASD. 

Budget: $125,000

Principal Investigator: Robert K. Naviaux, MD, PhD

Professor of Medicine, Pediatrics, Pathology, and Genetics, Co-director, the Mitochondrial and Metabolic Disease Center (MMDC),  University of California, San Diego (UCSD) School of Medicine

To investigate the chemical exposures and crosstalk between the metabolome and exposome in ASD

In this study the study authors will focus on measurable changes in the chemical exposures found in the blood of children with ASD and typically developing, age- and sex-matched controls, aged 4-6 years.  This proposal will leverage state-of-the-art mass spectrometry methods that the lab has developed to measure both the exposome and metabolome. 

The authors will target a total chemome coverage of over 1800 molecules.  By looking at the differences in the network correlations between natural chemicals in the metabolome and manmade chemicals in the exposome in both ASD and typically developing children, we will gain insight into biological resilience and sensitivity as reflected in the mathematical analysis of the network plasticity. The end goal is to rank the metabolic pathways that define the biological differences between 5-year olds with ASD and TD controls.

Budget: $75,000

Principal Investigator: Dr. Richard Frye, MD, PhD

Professor of Neurology, Phoenix Children’s Hospital and Professor of Child Health, University of Arizona, Phoenix AZ

To demonstrate that targeting mitochondrial function in autism will improve core symptoms of autism.

Between 5%-80% of children with ASD demonstrate evidence of mitochondrial dysfunction. One recent open-label study treated 11 children with ASD on a mitochondrial cocktail and showed improvement on several subclasses on the Autism Behavior Checklist (ABC).

We wish to perform a 50-subject double-blind placebo controlled clinical trial that targets the subset of children with ASD with mitochondrial dysfunction in order to increase the scientific evidence for treatment of children with ASD. 

Budget: $150,000

Principal Investigator: Edward V Quadros, PhD

Department of Medicine,
College of Medicine
SUNY Downstate Medical Center, NY

To establish a rat model to study genetic and epigenetic changes, their transmission to subsequent generations and associated behavioral deficits.

Folate, a B vitamin, is essential for fetal development including the brain and deficiency of this vitamin during embryonic development can produce structural and functional deficits in the neonatal brain. We have identified an autoimmune disorder in parents and ASD children that produces autoantibodies against the folate receptor alpha, which is the primary transporter of folate.

The proposal described is a 3 years project to characterize the trans-generational transmission of the behavioral phenotype in rat pups exposed to folate receptor antibodies during gestation and during the pre weaning period. These studies will compliment the ongoing clinical studies in ASD children where folinic acid treatment is being studied to improve core ASD deficits.

Budget: $100,000

Principal Investigator: Dr. Arthur Krigsman, MD

Autism GI (Private Practice)
Collaborators: Dr. Walker, PhD, Wake Forest Institute

To quantify symptom improvement and behavioral/cognitive changes in ASD children following treatment for  their chronic GI inflammation.

An inflammatory bowel disease (IBD) phenotype co-occurs frequently in children with autism spectrum disorder (ASD) having chronic gastrointestinal (GI) symptoms. Ileo-colitis (inflammation of ileum and colon) is a prominent finding in ASD GI symptomatic children undergoing diagnostic ileo-colonoscopy, and, in our clinical experience, is related, perhaps, to the GI symptoms. The negative impact of untreated gastrointestinal symptoms affect behavior, sleep, and severity of core ASD features.

Secondly, a bio-specimen repository (bowel biopsy tissue and blood) from >1500 well characterized children with a diagnosis of ASD and chronic bowel problems is being built. This study will refine the supposed blood-based gene expression signature for ASD patients with GI symptoms. This study will quantify symptom improvement and behavioral/cognitive changes in ASD children following treatment for their chronic GI inflammation.