Investigator: Soo Kim, MD
This study will evaluate the efficacy and safety of ZYN002, a clear cannabidiol (CBD) gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome (FXS). Eligible participants will then participate in up to a 14 week treatment period, where all participants will receive placebo or active study drug.
In the TIGER study we conduct a comprehensive assessment of individuals with genetic events associated with ASD, ID, and/or DD in order to better describe how different genetic events impact behavior in children and adults. Please see below for a list of genes that we are currently studying in the TIGER study. This list is not comprehensive. The field of genetics is always advancing and additional genes might be added to the list in the future. If you’re interested in participating and your child has a gene event not on this list, please feel free to contact us to check!
ADNP – ARID1B – CHD1 – CHD2 – CHD8 – CTNNB1 – DYRK1A – FOXP1
GRIN2B – MED13L – POGZ – PTEN – RIMS1 – SCN2A – SETBP1 – TRIP12
Rare Genes Disorder NPD (LEMUR) Study
Investigators: Evan Eichler, PhD & Rachel Earl, PhD
Among the known genetic etiologies of neuropsychiatric disorders (NPD), pathogenic loss-of- function copy number and sequence variants are the most common. Additional common and rare variants throughout the genome also impact the variable expressivity of NPD symptoms in rare genetic disorders. The additive contribution of these genomic influences on NPD risk and resilience remains largely unexplored, limiting the ability to individualize NPD prognoses for children and young adults with rare genetic disorders. To address these knowledge gaps, we will:
1) Employ a highly cost-effective, genetics-first strategy to achieve baseline characterization of a large cohort with genetic NPD etiologies
2) Describe detailed phenotypic signatures in selected rare genetic NPD, including the impact of family background on variable expressivity
3) Assess the contributions of common and secondary rare genomic variants to variable expressivity in rare genetic NPD
Connectivity in the Brain and Autism (COBRA) Study
Investigators: Scott Murray, PhD & Sara Webb, PhD
The COBRA study seeks to identify the specific neural circuits that are altered in autism spectrum disorder (ASD). Our experiments test the strength of “divisive normalization”, a measure that describes how neurons in the brain suppress each other. Our hypothesis is that suppressive interactions are reduced in individuals with ASD. Because suppressive neural interactions are well understood in the visual system, we use it as a model system. Suppressive neural interactions are measured in response to precisely controlled visual stimuli with a variety of brain measures including functional MRI to index neural responses, diffusion MRI to describe their anatomical connections, and EEG to understand their dynamics.
A Randomized, Double-Blind, Placebo-Controlled Study of the safety, tolerability, and efficacy of Arbaclofen in subjects with 16p11.2 deletion (16p del)
Investigator: Sara Webb, PhD & Soo Kim, MD
This study will examine the safety, tolerability, and efficacy of arbaclofen for the treatment of neurodevelopmental impairments in subjects with 16p11.2 deletion.
Autism Biomarkers Consortium for Clinical Trials (ABC-CT)
Investigators: Rachel Earl, PhD, Sara Webb, PhD, Natalia Kleinhans, PhD
This is a multicenter longitudinal study that aims to identify, develop and validate a set of measures that can be used as stratification biomarkers and/or sensitive and reliable objective measures of social impairment in ASD that could serve as markers of long term clinical outcome.
The goal of the SPARK project is to collect genetic information on 50,000 individuals across the country with ASD and their families. Anyone with a diagnosis of autism can participate! Participation includes online registration, consenting to be contacted about future research studies, and the delivery of a saliva sample. These samples will be analyzed for ASD-related genetic differences. Families may choose to have their genetic testing results sent to a medical provider of their choice, should a genetic difference related to ASD be found. If you are interested, please contact Seattle Children’s Autism Center research staff by email at firstname.lastname@example.org or by phone (207-987-7917).