Personalized gene-targeting treatment for one person with PACS1 syndrome
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study is testing a personalized medicine approach for one child with Schuurs-Hoeijmakers syndrome caused by a specific PACS1 gene change. The treatment is a custom-made molecule designed to target the genetic cause and potentially improve symptoms.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Your child must have a confirmed diagnosis of Schuurs-Hoeijmakers syndrome caused by a specific change in the PACS1 gene (called c.607C>T, p.Arg203Trp).
- You need to be able to bring your child to the study site for all required visits and follow-ups.
- You must allow the study team to access your child's medical records.
- Your child cannot have any health condition that, in the doctor's opinion, would make it unsafe or impossible to complete the study.
- Your child cannot have taken part in another experimental treatment in the last 3 months, and cannot plan to join another trial during the 2-year study period.
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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