STXBP1 ENCEPHALOPATHY WITH EPILEPSY
Clinical trials for STXBP1 ENCEPHALOPATHY WITH EPILEPSY explained in plain language.
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Groundbreaking study tracks rare genetic disorders to pave way for future treatments
Knowledge-focused Recruiting nowThis 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, …
Matched conditions: STXBP1 ENCEPHALOPATHY WITH EPILEPSY
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated May 26, 2026 12:07 UTC
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Paving the way: major study launches to ready STXBP1 treatments for trials
Knowledge-focused Recruiting nowThis study follows 120 people with STXBP1-related disorders—a rare genetic condition causing severe developmental delays and seizures—to better understand how the disease changes over time. Researchers will track symptoms and identify the best ways to measure treatment success, s…
Matched conditions: STXBP1 ENCEPHALOPATHY WITH EPILEPSY
Sponsor: European STXBP1 Consortium • Aim: Knowledge-focused
Last updated May 26, 2026 12:02 UTC