Study of new drug to treat brain symptoms in Timothy syndrome
Part of Brain & nervous system, Genetic & congenital, Mental health clinical trials.
This trial tests a new medicine for children with Timothy syndrome, a rare genetic condition that can cause heart, developmental, and brain problems. It aims to see if the drug can prevent or ease symptoms like seizures, autism, and developmental delays when started early.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Must have a confirmed Timothy syndrome type 1 gene change (the CACNA1C c.1216G>A variant)
- Must be older than 2 months of age
- Must not have unstable heart rhythm problems or be critically ill
- Must not have another genetic disorder
- Must not have severe brain injury from cardiac arrest
- Must be able to have MRI and lumbar puncture (spinal tap) tests
- Must not have used other experimental drugs or gene therapy
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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