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

n-Lorem Foundation

Status and phase

Not yet enrolling

Phase 2

Phase 1

Conditions

Schuurs-Hoeijmakers Syndrome

Treatments

Drug: nL-PACS1-001

Study type

Interventional

Funder types

Other

Identifiers

NCT07474298

NLF-HC-0001

Details and patient eligibility

About

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

Full 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

Enrollment

1 estimated patient

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

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)

Exclusion criteria

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