Recruiting

Observational Study

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT06555965

Conditions

Genetic Disease

STXBP1 Encephalopathy With Epilepsy

SYNGAP1-Related Intellectual Disability

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Non-interventional study

Study Details

Brief 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.

Conditions

Genetic Disease

STXBP1 Encephalopathy With Epilepsy

SYNGAP1-Related Intellectual Disability

Study ID

NCT06555965

Start date

Aug 30, 2023

Status verified date

Oct, 2025

Completion date

Dec 30, 2028

Anticipated

Primary completion date

Aug 30, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Male or female of any age.
  • Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory.

Exclusion Criteria:

  • The presence of a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to contribute to a neurodevelopmental disability. This includes full gene deletions of STXBP1 or SYNGAP1 that include other genes beyond STXBP1 or SYNGAP1.
  • The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study.
  • History of intraventricular hemorrhage, structural brain deficit or congenital heart disease
  • The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.
  • Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Arms

STXBP1 cohort

SYNGAP1 cohort

Interventions

Non-interventional study

There is no planned intervention in this study

Primary outcome measure

  • Changes in percentiles recorded on clinical assessments over time [ Time Frame: Every 6 months upto 5 years ]

Central Contacts and Locations

Central contacts

Joeylynn Nolan, RRT NPS AE-C

2674411813COYNEJ@chop.edu

Victoria Chisari, BA, NS

ChisariV@chop.edu

Locations

Stanford Medicine Children's Health

Recruiting

Palo Alto, California, United States, 94304

Contacts

Swetapadma Patnaik

sweta@stanford.edu

Principal Investigator:

Juliet Knowles, MD

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80011

Contacts

Megan Stringfellow

Megan.Stringfellow@childrenscolorado.org

Principal Investigator:

Andrea Miele, PhD

Weill Cornell Medicine

Recruiting

New York, New York, United States, 10065

Contacts

Millie Stone

aks4017@med.cornell.edu

Principal Investigator:

Zachary Grinspan, MD

The Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19403

Contacts

Joeylynn Nolan

coynej@chop.edu

Principal Investigator:

Ingo Helbig, MD

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Ekaterina Sanchez Romero

chao-lab@bcm.edu

Principal Investigator:

Hsiao-Tuan Chao, MD, PhD

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Oct 29, 2025

Last verified

Oct, 2025

Keywords

  • STXBP1
  • Natural History
  • Clinical Research
  • SYNGAP1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2025-10-29.