Groundbreaking study tracks rare genetic disorders to pave way for future treatments
NCT ID NCT06555965
First seen Nov 01, 2025 · Last updated May 23, 2026 · Updated 34 times
Summary
This study aims to learn more about STXBP1 and SYNGAP1 related disorders, which cause developmental delays, seizures, and intellectual disability. Researchers will follow 600 participants of any age who have a confirmed mutation in one of these genes, tracking their development, seizures, and quality of life over time. The information gathered will help design future clinical trials for 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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Contacts and locations
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Study contacts
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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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Weill Cornell Medicine
RECRUITINGNew York, New York, 10065, United States
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Conditions
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