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

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug intended for a single participant with Schuurs-Hoeijmakers syndrome (SHMS) due to a pathogenic, de novo, heterozygous missense gain-of-function mutation in PACS1

NCT Number	NCT07474298
Lead Sponsor	n-Lorem Foundation Collaborators: The Hospital for Sick Children
Conditions	Schuurs-Hoeijmakers Syndrome
Enrollment	1 participants
Start Date	2026-04
Primary Completion	2028-04 (estimated)
Study Completion	2028-04 (estimated)
Updated on ClinicalTrials.gov	2026-03-16