STXBP1 and SYNGAP1 Related Disorders Natural History Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorChildren's Hospital of Philadelphia
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
Participating individuals must have a confirmed genetic diagnosis of STXBP1 or SYNGAP1 related disorders. Participants can be any age and present with any disease severity
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Non-interventional study
Other interventionThere is no planned intervention in this study
Treatment groups
600 Participants
are divided into 2 treatment groupsGroup A: STXBP1 cohort1 intervention
Group B: SYNGAP1 cohort1 intervention
Trial outcomes
Primary outcomes
1
Changes in percentiles recorded on clinical assessments over time
The primary analysis will include all subjects meeting all inclusion and exclusion criteria and completing Visit 1. For each subject, the percentage of items performed correctly on the clinical assessments will be recorded. Changes in percentiles over time will be analyzed using a linear mixed effects model, to account for repeated measures for each patient.
Time frame
Every 6 months upto 5 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Children's Hospital of Philadelphia
Lead sponsor
STXBP1 Foundation
Collaborator
Source ClinicalTrials.gov