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STXBP1 cohort for Genetic Disorder
N/A
Recruiting
Led By Ingo Helbig, MD
Research Sponsored by Children's Hospital of Philadelphia
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Timeline
Screening 3 weeks
Treatment Varies
Follow Up every 6 months upto 5 years
Awards & highlights
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.
Eligible Conditions
- Genetic Disorder
- Encephalopathy With Epilepsy
- Intellectual Disability
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ every 6 months upto 5 years
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~every 6 months upto 5 years
Treatment Details
Study Objectives
Study objectives can provide a clearer picture of what you can expect from a treatment.Primary study objectives
Changes in percentiles recorded on clinical assessments over time
Trial Design
2Treatment groups
Experimental Treatment
Group I: SYNGAP1 cohortExperimental Treatment1 Intervention
Group II: STXBP1 cohortExperimental Treatment1 Intervention
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Who is running the clinical trial?
Children's Hospital of PhiladelphiaLead Sponsor
721 Previous Clinical Trials
8,603,927 Total Patients Enrolled
STXBP1 FoundationUNKNOWN
1 Previous Clinical Trials
50 Total Patients Enrolled
Ingo Helbig, MDPrincipal InvestigatorChildren's Hospital of Philadelphia
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