Personalized genetic drug for PACS1-related Schuurs-Hoeijmakers syndrome
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study is testing a personalized experimental drug called an antisense oligonucleotide (a type of genetic medicine) for a single person with Schuurs-Hoeijmakers syndrome caused by a specific PACS1 gene mutation. The goal is to see if this custom treatment is safe and may improve symptoms related to the syndrome.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a confirmed diagnosis of Schuurs-Hoeijmakers syndrome from a specific change in the PACS1 gene (called c.607C>T).
- You must be able to travel to the study site and follow all study visits and procedures.
- You cannot be in any other experimental treatment study right now or have been in one within the last 3 months.
- You must not have any other health condition that would make it unsafe to complete the study, in the doctor's judgment.
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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