research_studies

A listing of the open research studies at the ANP

Macrocephaly in Autism

By investigating the structural and functional brain imaging in a cohort of idiopathic ASD patients who have macrocephaly, we are optimistic that we can establish a link between common biochemical and brain developmental pathways that are disrupted in ASD, and thus, plot a path to targeted treatment.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: NIH and private foundations and grants
  • Recruiting?: Yes
  • Official study title: Brain Imaging and Cell Signaling: Insights into the Biology of Autism
  • Conditions studied: Autism spectrum disorders with macrocephaly

Autism Translation to Treatments Project

The AT3 Study is a novel prospective study which will carefully monitor young children who were recently diagnosed with autism and who are undergoing detailed biomedical evaluation and treatment with their regular physician at one of five study sites in the United States.

Summary

  • Study director: Robert Hendren, DO
  • Sponsor: Private Foundation: Jane Johnson Foundation
  • Recruiting?: Yes
  • Official study title: Autism Translation to Treatments (AT3) Project
  • Conditions studied: Autistic disorder

ASD Biomarker Study

This research study is aimed at better understanding the biological mechanisms underlying autism spectrum disorders. A first step towards this process would be development of an easily and reliably measurable biomarker, which requires an understanding of the common elements underlying ASD biology. In the proposed research, we aim to make rapid progress toward identifying a blood biomarker for autism spectrum disorders.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: NIH and private foundations and grants
  • Recruiting?: Yes
  • Official study title: Biomarker Discovery in Autism Spectrum Disorder (ASD)
  • Conditions studied: Autism spectrum disorders that have been clinically diagnosed

Adult Outcomes in Autism

In the past 15 years, estimates of autism prevalence have increased from 1:800 (DSM-IV, APA, 1994) to as high as 1:110 presently (2008, CDC). If as data suggest, most adults have limited prognoses, studying predictors of outcomes among those currently just reaching adulthood can provide an understanding of how to provide positive and cost-effective treatment.

Summary

  • Study director: Bryna Siegel, PhD
  • Sponsor: UCSF
  • Recruiting?: Yes
  • Official study title: Early Childhood Predictors of Adult Outcomes in Autism
  • Conditions studied: Adults who were diagnosed with an autism spectrum disorder before the age of 4 at the UCSF Autism Clinic

Skin Cell to Stem Cell RasCal Study

The study will be looking at the effects of subject genetic changes on different types of cells that we can study in the laboratory, all from a small skin sample. We believe that this study will expand our knowledge about RASopathies and hope this knowledge could be used to develop new and better treatments in the future.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Skin cell to stem cell RasCal study
  • Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)

RASopathy Associated Traits California (RasCal) Study

We want to understand why some RASopathy associated features are different among affected people. In order to study this, we will collect genetic information on RASopathy subjects and their family members. We will use this information to determine if there is a change at genetic locations other than the disease genes that may interact with a Ras-MAPK pathway mutation to contribute to the different risk that we see among subjects for developmental problems, cancer risk, muscle strength, and other features.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: RASopathy Associated Traits California (RasCal) study
  • Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)

Brain Development Research Program Study

We are studying the clinical, genetic, and radiographic features of brain malformation disorders to better understand the problems that individuals affected by these disorders are likely to face. The goal of our research is to develop a better understanding of the underlying genetic causes as a foundation for devising better treatments for these groups of patients.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: NIH and private foundations and grants
  • Recruiting?: Yes
  • Official study title: Brain Development Research Program
  • Conditions studied: Disorders of brain development that are visible on an MRI (or other imaging study) and/or disorders of brain development that have been clinically diagnosed, such as autism, epilepsy or cerebral palsy.

Simons Variation in Individuals Project

The purpose of this project is to characterize the clinical and behavior features associated with specific genetic mutations likely to be involved in ASD or other neurodevelopmental disorders. Currently Simons VIP is focused on 16p11.2 deletions and duplications, the most common genetic disorder associated with ASD. The end goal of our project is to develop science-based solutions and targeted treatments to improve the lives of individuals with genetic and developmental differences.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: The Simons Foundation
  • Recruiting?: Yes
  • Official study title: Simons Variations in Individuals Project
  • Conditions studied: Genetic mutations likely to be involved in ASD and other neurodevelopmental disorders. Currently we are investigating only copy number variations of 16p11.2.

Chromosome 16p11.2 Deletion Study

The goal of this project is to convert skin cells from patients with 16p11.2 deletion into neurons and study the growth of these neurons in the lab to understand potential neurodevelopmental effects of this deletion and how they might be corrected.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Chromosome 16p11.2 Study
  • Conditions studied: 16p11.2 deletion, a genetic copy number variation strongly associated with autism features
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