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STXBP1 and SYNGAP1 Related Disorders Natural History Study

NCT06555965 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2025-10-29

No results posted yet for this study

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

Interventions

OTHER

Non-interventional study

There is no planned intervention in this study

Sponsors & Collaborators

Principal Investigators

  • Ingo Helbig, MD · Children's Hospital of Philadelphia

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-08-30
Primary Completion
2028-08-30
Completion
2028-12-30

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06555965 on ClinicalTrials.gov