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Rett Syndrome Real World Data Observational Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with t…
Patterns of Disease, Outcomes and Treatment Response in Children With Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies…
Diagnosis of Childhood-onset Behavioral Disorders, Neuropsychiatric Disorders and Neurodevelopmental Disorders
Background: \- Many psychiatric, behavioral, and developmental disorders are genetic. This means that they tend to run in families. Some begin in childhood, w…
Reducing Appointment NoShow Through Targeted Pre-appointment Messaging
There are four goals of this project: (1) To examine the impact of different appointment reminder messages on appointment attendance; (2) to determine the adde…
Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
This study will include a comprehensive retrospective chart review and a longitudinal prospective observational natural history study to characterize the pheno…
Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, …
Optimization of Saturation Targets And Resuscitation (OptiSTART): Multicenter Randomized Controlled Trial
This study is designed to answer one of the fundamental gaps in knowledge in the resuscitation of preterm infants at birth: What is the optimal target oxygen s…
Lipid Infusions to Optimize Nutrition (LION) and Minimize Bronchopulmonary Dysplasia and Neurodevelopmental Impairment in Extremely Preterm Infants: A Randomized Comparative Effectiveness Trial
The purpose of this study is to identify survival free of bronchopulmonary dysplasia (BPD), fatty acid profiles, and early biochemical measures for oxidative s…
Functional and Neurodevelopmental Outcomes Following Intensive Multimodal Neurorehabilitation in Pediatric Patients With Neurodevelopmental Disorders, Including Chromosomal Abnormalities
This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitati…
HeartGPS: A Longitudinal Randomized Controlled Trial Examining the Effects of a Prenatally-Delivered Psychological Intervention for Parents and Their Babies With Single Ventricle Congenital Heart Disease
Babies with single ventricle congenital heart disease (SVCHD) are often diagnosed during pregnancy. While prenatal diagnosis has important clinical benefits, i…
A Stage 1 Pilot Test for Feasibility and Efficacy of a Multi-Level Intervention to Increase Physical Activity in Adults With Intellectual Disability: Physical Activity and Community EmPOWERment (PACE)
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (I…
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and fun…