nL-PACS1-001 clinical trials

Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)

This study is testing a new, personalised medicine for one person with Schuurs-Hoeijmakers Syndrome (SHMS). It’s looking at whether this special medicine, designed just for them, is safe and helps with their condition, which is caused by a change in the PACS1 gene.