Researchers track rare genetic disorders to pave way for future treatments
NCT ID NCT06555965
First seen Nov 01, 2025 · Last updated May 15, 2026 · Updated 33 times
Summary
This study follows 600 people of any age who have a genetic change in the STXBP1 or SYNGAP1 gene. Researchers will track development, seizures, and quality of life over time using standard tests. The goal is to better understand these rare disorders and prepare for future clinical trials of potential treatments.
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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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
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Locations
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Children's Hospital Colorado
RECRUITINGAurora, Colorado, 80011, United States
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Stanford Medicine Children's Health
RECRUITINGPalo Alto, California, 94304, United States
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Texas Children's Hospital
RECRUITINGHouston, Texas, 77030, United States
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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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Conditions
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