STXBP1 and SYNGAP1 Related Disorders Natural History Study

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.

Conditions

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

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Study Overview

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Study Details

Study overview

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.

STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study

STXBP1 and SYNGAP1 Related Disorders Natural History Study

Condition
Genetic Disease
Intervention / Treatment

-

Contacts and Locations

Palo Alto

Stanford Medicine Children's Health, Palo Alto, California, United States, 94304

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80011

New York

Weill Cornell Medicine, New York, New York, United States, 10065

Philadelphia

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19403

Houston

Texas Children's Hospital, Houston, Texas, United States, 77030

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.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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.
  • * 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.
  • * Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Children's Hospital of Philadelphia,

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

Study Record Dates

2028-12-30