Ignite Creation Date:
2024-10-26 @ 3:37 PM
Last Modification Date:
2024-10-26 @ 3:37 PM
Study NCT ID:
NCT06555965
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-08-13
Brief Title:
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Sponsor:
None
Organization:
None
Study Overview
Official Title:
STXBP1 and SYNGAP1 Related Disorders RD Natural History Study
Status:
RECRUITING
Status Verified Date:
2024-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
Detailed Description:
STXBP1 and SYNGAP1 related disorders are genetic disorders that cause differences in the synaptic transmission of the brain Disease-causing variants in these genes lead to a spectrum of developmental delay that is most often severe epileptic encephalopathies and complex behavioral and psychiatric disorders As there are multiple targeted therapies in development for these conditions there is an urgent need to push forward a prospective natural history study in order to define specific disease outcomes in these genetic conditions
Participation may last up to five years and will involve up to 10 study visits Detailed questions about health and medical history physical exams electrographic encephalogram EEG or quantitative EEG qEEG and some age-appropriate assessments of neurodevelopmental and behavioral function are some of the study procedures Study procedures will occur during regularly scheduled clinic visits Participants will undergo assessments at baseline visit and semi-annually every 6 months for 2-5 years
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
The secondary objectives of the study are listed below
To evaluate changes in neurodevelopmental and behavioral parameters as assessed by instruments appropriate to the study population
To assess the burden of disease by quality-of-life instruments appropriate to the study population
To assess the burden of performing multiple outcome measures and scales on the caregiver participant and clinical personnel
To assess health care resource utilization
Participation may last up to five years and will involve up to 10 study visits Detailed questions about health and medical history physical exams electrographic encephalogram EEG or quantitative EEG qEEG and some age-appropriate assessments of neurodevelopmental and behavioral function are some of the study procedures Study procedures will occur during regularly scheduled clinic visits Participants will undergo assessments at baseline visit and semi-annually every 6 months for 2-5 years
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
The secondary objectives of the study are listed below
To evaluate changes in neurodevelopmental and behavioral parameters as assessed by instruments appropriate to the study population
To assess the burden of disease by quality-of-life instruments appropriate to the study population
To assess the burden of performing multiple outcome measures and scales on the caregiver participant and clinical personnel
To assess health care resource utilization
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None