Researchers track rare genetic disorders to prepare for future treatments

NCT ID NCT06555965

Recruiting now Knowledge-focused Sponsor: Children's Hospital of Philadelphia Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is observing 600 people of any age with STXBP1 or SYNGAP1 gene mutations to better understand how these disorders affect development, seizures, and quality of life. No treatment is given; instead, researchers will collect data from routine clinical assessments over time. The goal is to gather information needed to design future clinical trials for potential therapies.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this study will provide crucial data to design future clinical trials for treatments for STXBP1 and SYNGAP1 related disorders.
What could go wrong: This is an observational study with no treatment being tested, so it will not directly improve symptoms. Results depend on consistent participation and data collection over time.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

developmental and epileptic encephalopathy, 4 hereditary disease intellectual disability, autosomal dominant 5

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GENETIC DISEASE STXBP1 ENCEPHALOPATHY WITH EPILEPSY SYNGAP1-RELATED INTELLECTUAL DISABILITY

Contacts and locations

Locations

Children's Hospital Colorado
RECRUITING

Aurora, Colorado, 80011, United States
Stanford Medicine Children's Health
RECRUITING

Palo Alto, California, 94304, United States
Texas Children's Hospital
RECRUITING

Houston, Texas, 77030, United States
The Children's Hospital of Philadelphia
RECRUITING

Philadelphia, Pennsylvania, 19403, United States
Weill Cornell Medicine
RECRUITING

New York, New York, 10065, United States

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