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Impact of Timing of Initiation of Sulphonylurea Therapy on Neurodevelopmental Outcomes in Individuals With Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (iDEND) Syndrome Due to the V59M Mutation in the KCNJ11 Gene
The goal of this observational study is to learn about the impact of the diabetes drug glibenclamide (glyburide) on neurodevelopment in individuals with iDEND …
Harnessing Communication Preferences to Enhance Its Persistence and Mitigate Relapse of Challenging Behavior
The goal of this clinical trial is to evaluate how preference for communication approach (e.g., using a touch talker versus picture cards) impacts treatment ma…
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse…
Understanding Mental Health Crises in Youth With Intellectual and Developmental Disabilities
This study is an unmatched, case-control study of 150 youth (Ages 7-17) with a parent reported Intellectual Developmental Disability (IDD) who present to Rady …
Comparing Peer Support and Staff-Delivered Transportation Interventions for Young Adults With Intellectual and Developmental Disabilities (YA-IDD) on Loneliness, Social Participation, and Transportation Skills
This clinical trial will look at whether young adults with intellectual and developmental disabilities (YA-IDD) have better outcomes when a travel training int…
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, …
Future Planning and Well-Being for Individuals With Intellectual Disabilities and Family Caregivers
This study will compare the effectiveness of a web-based long-term care planning tool (Map Our Life) partnered with traditional case management services to tra…
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) path…
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…
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to s…
STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for cl…