RecruitingNCT06555965

STXBP1 and SYNGAP1 Related Disorders Natural History Study

STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study

Sponsor

Children's Hospital of Philadelphia

Enrollment

600 participants

Start Date

Aug 30, 2023

Study Type

OBSERVATIONAL

Conditions

Genetic Disease SYNGAP1-Related Intellectual Disability STXBP1 Encephalopathy With Epilepsy

Summary

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.

Eligibility

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Non-interventional study for people with genetic disease, stxbp1 encephalopathy with epilepsy, and other related conditions. The study is currently recruiting participants at 5 locations.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERNon-interventional study

There is no planned intervention in this study

Locations(5)

Stanford Medicine Children's Health

Palo Alto, California, United States

Children's Hospital Colorado

Aurora, Colorado, United States

Weill Cornell Medicine

New York, New York, United States

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Texas Children's Hospital

Houston, Texas, United States

View Full Details on ClinicalTrials.gov

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NCT06555965

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