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+184 more

~Estimated

~$10 – $1,125

Simons SearchlightNCT01238250

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…

RAS MutationNeurofibromatosis 1Noonan Syndrome+11 more

~Estimated

~$10 – $675

Children's Hospital Medical Center, CincinnatiNCT04395495

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

~Estimated

~$10 – $750

Children's Hospital of PhiladelphiaNCT06555965