NCT07474298

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

An Open-label Single Center Study of an Experimental Antisense Oligonucleotide Treatment of a Participant With Schuurs-Hoeijmakers Syndrome Due to PACS1 Genetic Mutation

• Status: Not Yet Recruiting
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 1 (estimated)
• Sponsor: n-Lorem Foundation · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

Detailed description

This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with SHMS due to a pathogenic, de novo, heterozygous missense gain-of-function mutation in PACS1

Conditions

• Schuurs-Hoeijmakers Syndrome

Interventions

Type	Name	Description
DRUG	nL-PACS1-001	Personalized antisense oligonucleotide

Timeline

• Start date: 2026-04-01
• Primary completion: 2028-04-01
• Completion: 2028-04-01
• First posted: 2026-03-16
• Last updated: 2026-03-16

Locations

1 site across 1 country: Canada