Assessing the landscape of STXBP1-related disorders in 534 individuals.
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero...
https://pubmed.ncbi.nlm.nih.gov/35190816Actively Recruiting
All Genders
ID06555965
STXBP1 and SYNGAP1 Related Disorders Natural History Study to Define Clinical Spectrum and Outcomes
Led by Children's Hospital of Philadelphia · Updated on 2025-10-29
600
Participants Needed
5
Research Sites
17 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Philadelphia
Lead Sponsor
S
STXBP1 Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to understand more about disorders related to the STXBP1 and SYNGAP1 genes, which cause differences in brain synaptic transmission leading to developmental delays, epileptic encephalopathies, and complex behavioral and psychiatric disorders. The study seeks to define the clinical spectrum of these genetic conditions through detailed assessments as part of routine clinical care, preparing for future clinical treatment trials. Participants will be involved in a non-interventional, observational natural history study lasting up to five years, with up to 10 study visits. These visits include detailed health and medical history questions, physical exams, EEG or quantitative EEG tests, and age-appropriate neurodevelopmental and behavioral assessments. Assessments are conducted at the baseline visit and then every six months for 2 to 5 years. During the study, participants will undergo evaluations of their development, seizures, and quality of life. Researchers will monitor changes in clinical assessment percentiles over time and assess the burden of disease and testing on participants, caregivers, and clinical staff. The study also tracks healthcare resource use, with all procedures occurring during regularly scheduled clinic visits.
CONDITIONS
Brief Title
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Male or female of any age
- Presence of a STXBP1 or SYNGAP1 gene mutation classified as causative
- Historical documentation or confirmatory testing by a CLIA certified laboratory to support eligibility
You will not qualify if you...
- Confirmed mutation in a gene other than STXBP1 or SYNGAP1 causing neurodevelopmental disability
- Full gene deletions including genes beyond STXBP1 or SYNGAP1
- Significant unrelated central nervous system impairment or behavioral disturbance
- History of intraventricular hemorrhage, structural brain deficit, or congenital heart disease
- Clinical comorbidity that may confound typical presentation of STXBP1 or SYNGAP1 disorders
- Pregnant women or females of childbearing potential found to be pregnant upon testing
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Long-term Monitoring
Duration - Up to 5 years
Participants undergo assessments of neurodevelopmental and behavioral function, as well as quality of life, during regularly scheduled clinic visits.
Up to 10 visits occurring approximately every 6 months
Trial Site Locations
Total: 5 locations
1
Stanford Medicine Children's Health
Palo Alto, California, United States, 94304
Actively Recruiting
2
Children's Hospital Colorado
Aurora, Colorado, United States, 80011
Actively Recruiting
3
Weill Cornell Medicine
New York, New York, United States, 10065
Actively Recruiting
4
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19403
Actively Recruiting
5
Texas Children's Hospital
Houston, Texas, United States, 77030
Actively Recruiting
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Research Team
J
Joeylynn Nolan, RRT NPS AE-C
V
Victoria Chisari, BA, NS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.
Ping Yang, Robert Broadbent, Chitra Prasad...
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Hsiang-Hui Wang, Hua-Fang Liao, Ching-Lin Hsieh
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Scott Demarest, Elia M Pestana-Knight, Heather E Olson...
https://pubmed.ncbi.nlm.nih.gov/31147226