Brain Gene Registry
Site Principal Investigator: Constance Smith-Hicks, MD PhD
Status: Active, recruiting
The goals of this multi-site research study are to create a mechanism to interpret clinical genomic information in patients with IDD by establishing a national EHR-based IDD registry equipped to enhance phenotypic characterization, link genotypic and phenotypic data, and promote discovery. The research is supported by the IDDRS-CTSA Brain Gene Registry grant, U01TR002764 from NCATS/NIH.
Rett Syndrome Registry
Site Principal Investigator: Constance Smith-Hicks, MD PhD
Status: Active, recruiting
This is a longitudinal multi-site study focused on the collection of real-world data from individuals with mutations on the MECP2 gene to better define the disease spectrum and the disease course throughout the lifespan, with the goal to improve care and accelerate drug development. This study is funded by the International Rett Syndrome Foundation. Learn more.
Sleep dysfunction in neurodevelopmental disorders of synaptic origin.
Principal Investigator: Constance Smith-Hicks, MD PhD
Status: Active, recruiting
Sleep disorders are a common feature of neurodevelopmental disorders. In this clinical research study, we will use previously acquired overnight EEGs to examine neural networks underlying sleep and their association with behavioral features of synaptic disorders.
Examining phenotypic diversity in SYNGAP1-Related Disorders
This is a collaborative project with Lena Smirnova, PhD. We will use patient derived iPSC lines and brain organoids to examine neural mechanism involved in phenotype diversity. This research study is funded by a grant from the Maryland Stem Cell Research Fund.
FORWARD Fragile X Clinical and Research Cooperative Consortium Registry and Repository
Principal Investigator: Dejan Budimirovic, MD
Status: Active, recruiting
The goal of this multi-site collaborate is to use Longitudinal Data to Characterize the Natural History of Fragile X Syndrome.