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

U.S., March 17 -- ClinicalTrials.gov registry received information related to the study (NCT07474298) titled 'Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)' on March 11.

Brief 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

Study Start Date: April, 2026

Study Type: INTERVENTIONAL

Condition: Schuurs-Hoeijmakers Syndrome

Intervention: DRUG: nL-PACS1-001

Personalized antisense oligonucleotide

Recruitment Status: NOT_YET_RECRUITI...