Researchers track rare genetic disorders to prepare for future treatments
NCT ID NCT06555965
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.
Disclaimer
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Email: •••••@•••••
Locations
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Children's Hospital Colorado
RECRUITINGAurora, Colorado, 80011, United States
Contact
Contact Email: •••••@•••••
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Stanford Medicine Children's Health
RECRUITINGPalo Alto, California, 94304, United States
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Contact Email: •••••@•••••
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Texas Children's Hospital
RECRUITINGHouston, Texas, 77030, United States
Contact Email: •••••@•••••
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The Children's Hospital of Philadelphia
RECRUITINGPhiladelphia, Pennsylvania, 19403, United States
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Contact Email: •••••@•••••
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Weill Cornell Medicine
RECRUITINGNew York, New York, 10065, United States
Contact Email: •••••@•••••
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