RECRUITING

STXBP1 and SYNGAP1 Related Disorders Natural History Study

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Conditions

Genetic DiseaseSTXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual DisabilitySTXBP1Natural HistoryClinical ResearchSYNGAP1

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study

Quick Facts

Study Start:2023-08-30
Study Completion:2028-12-30
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06555965

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Male or female of any age.
  2. * 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.
  1. * 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.
  2. * 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.
  3. * History of intraventricular hemorrhage, structural brain deficit or congenital heart disease
  4. * The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.
  5. * Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.

Contacts and Locations

Study Contact

Joeylynn Nolan, RRT NPS AE-C
CONTACT
267 426 7971
COYNEJ@chop.edu
Priya Vaidiswaran, MS, MRA
CONTACT
vaidiswarp@chop.edu

Principal Investigator

Ingo Helbig, MD
PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia

Study Locations (Sites)

Stanford Medicine Children's Health
Palo Alto, California, 94304
United States
Children's Hospital Colorado
Aurora, Colorado, 80011
United States
Weill Cornell Medicine
New York, New York, 10065
United States
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19403
United States
Texas Children's Hospital
Houston, Texas, 77030
United States

Collaborators and Investigators

Sponsor: Children's Hospital of Philadelphia

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-08-30
Study Completion Date2028-12-30

Study Record Updates

Study Start Date2023-08-30
Study Completion Date2028-12-30

Terms related to this study

Keywords Provided by Researchers

  • STXBP1
  • Natural History
  • Clinical Research
  • SYNGAP1

Additional Relevant MeSH Terms

  • Genetic Disease
  • STXBP1 Encephalopathy With Epilepsy
  • SYNGAP1-Related Intellectual Disability