Condition: Genetic Disease · STXBP1 Encephalopathy With Epilepsy · SYNGAP1-Related Intellectual Disability · Sponsor: Children's Hospital of Philadelphia
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 clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.
This description comes directly from the study's public registry record.
Joeylynn Nolan, RRT NPS AE-C · 2674411813 · COYNEJ@chop.edu
Victoria Chisari, BA, NS · ChisariV@chop.edu
Always discuss trial participation with your own doctor first.
| Stanford Medicine Children's Health | Palo Alto, California, United States | Recruiting |
| Children's Hospital Colorado | Aurora, Colorado, United States | Recruiting |
| Weill Cornell Medicine | New York, New York, United States | Recruiting |
| The Children's Hospital of Philadelphia | Philadelphia, Pennsylvania, United States | Recruiting |
| Texas Children's Hospital | Houston, Texas, United States | Recruiting |
Get one email when the public record changes — results posted, or the study's status changes. Nothing else, ever.
We email about this public record only. Unsubscribe anytime with one click. Never medical advice.
This page is independently generated by Eichor from the public ClinicalTrials.gov record and re-synced daily. It is not the sponsor's official website unless claimed. Nothing here is medical advice; eligibility is always determined by the study team — talk to your own doctor first.
Source record: clinicaltrials.gov/study/NCT06555965