STXBP1 and SYNGAP1 Related Disorders Natural History Study

Abroad (travel likely)Recruiting

Conditions

Genetic Disease · STXBP1 Encephalopathy With Epilepsy · SYNGAP1-Related Intellectual Disability

Simple summaryAI-assisted

This summary is produced by a language model and is experimental. It may be incomplete or inaccurate and is not a substitute for professional medical advice.

Locations

Stanford Medicine Children's Health, Palo Alto, California, United States
Contact: Study coordinator (Swetapadma Patnaik) · sweta@stanford.edu
Contact: Principal Investigator (Juliet Knowles, MD)
Children's Hospital Colorado, Aurora, Colorado, United States
Contact: Study coordinator (Megan Stringfellow) · Megan.Stringfellow@childrenscolorado.org
Contact: Principal Investigator (Andrea Miele, PhD)
Weill Cornell Medicine, New York, New York, United States
Contact: Study coordinator (Millie Stone) · aks4017@med.cornell.edu
Contact: Principal Investigator (Zachary Grinspan, MD)
The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
Contact: Study coordinator (Joeylynn Nolan) · coynej@chop.edu
Contact: Principal Investigator (Ingo Helbig, MD)
Texas Children's Hospital, Houston, Texas, United States
Contact: Study coordinator (Ekaterina Sanchez Romero) · chao-lab@bcm.edu
Contact: Principal Investigator (Hsiao-Tuan Chao, MD, PhD)

Study leads

Ingo Helbig, MD
Principal Investigator
Children's Hospital of Philadelphia

View source on ClinicalTrials.gov Contact study team (email)