Other UCSF Lab Studies

PRONTO Lab's Autism Intervention Study for Children 

AVIATION Study: Double blind placebo controlled study with 4 mg/day or 10 mg/day tablet of human vasopressin 1a (V1a) receptor antagonist. May improve social communications and behavior in ASD. V1a receptors in brain regions are associated with control of stress & anxiety, social & affiliative behaviors

UCSF STAR Center

We are looking for children that may have autism as well as children that are typically developing. The study is evaluating in investigational, noninvasive eye tracking device to diagnose ASD. The device collects and analyzes eye-tracking data while videos are watched in order to measure a child’s level of social functioning. The procedure itself lasts 15 minutes, but the visit to the center lasts about 3.5 – 5 hours and includes a physical exam and a developmental and social communication assessment.

Autism Trial with Digestive Enzyme CM-AT

This is a Phase 3 clinical trial of CM-AT, a pancreatic enzyme, in patients aged 9–12 years with autistic disorder. It is hoped that CM-AT will help improve autistic symptoms through a positive impact on gastrointestinal function.

 

Disorders of Cerebral Development 

The development of the central nervous system requires the precise and coordinated expression of thousands of genes. Abnormalities in some of many of these genes can lead to brain malformations, which are often associated with considerable developmental problems, intractable epilepsy, and hydrocephalus. One critical brain structure that can be found altered or absent is the corpus callosum, others include the cerebral cortex and cerebellum. In the mature brain, the corpus callosum serves as the pathway through which axons from both hemispheres cross to allow for bilateral coordination of movement and thought. Of the brain malformations observed in patients, agenesis of the corpus callosum (ACC) is one of the most common. This study investigates the clinical and genetic causes of a wide range of cortical malformations and neurodevelopmental disorders. These include: Agenesis/Dysgenesis of the Corpus Callosum (A/DCC), Aicardi Syndrome, Polymicrogyria (PMG), Periventricular Nodular Heterotopias (PVNH), Subcortical Heterotopias (SCH), Dandy-Walker Malformation (DWM), and other malformations of cortical development. This research yields high potential in uncovering the genetic causes of ACC and other neurodevelopmental disorders in order to provide families more information regarding outcomes and causes for patients.

 

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.

 

Sex Specific Dissection of Autism Genetics

The purpose of this study is to find genes related to autism spectrum disorders that might differ in boys and girls.

 

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.