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

NCT07474298 · Status: NOT_YET_RECRUITING · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 1

Last updated 2026-03-16

No results posted yet for this study

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

Conditions

  • Schuurs-Hoeijmakers Syndrome

Interventions

DRUG

nL-PACS1-001

Personalized antisense oligonucleotide

Sponsors & Collaborators

  • The Hospital for Sick Children (SickKids)

    collaborator UNKNOWN

  • n-Lorem Foundation

    lead OTHER

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-04-30
Primary Completion
2028-04-30
Completion
2028-04-30

Countries

  • Canada

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07474298 on ClinicalTrials.gov