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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+181 more
Simons SearchlightNCT01238250
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…
Genetic DiseaseSTXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual Disability
Children's Hospital of PhiladelphiaNCT06555965