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

Starting soon · Phase 1/Phase 2

Conditions studied: Schuurs-Hoeijmakers Syndrome

In brief

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

Key facts

Study ID

NCT07474298

Run by

n-Lorem Foundation

People needed

1

Starts

2026-04-01

Expected to finish

2028-04-01

Last updated by the study team

2026-03-16

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Informed consent/assent provided by the participant's parent(s) or legally authorized representative(s)
• Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records
• Genetically confirmed SHMS due to PACS1 gene mutationc.607C>T (p.Arg203Trp)

You may not qualify if…

• Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures
• Participation in another investigational trial within 3 months of study enrollment or planned participation during the 24-month trial

Where it is running

• The Hospital for Sick Children (SickKids) — Toronto, Ontario, Canada

Full record on ClinicalTrials.gov

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