Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
n-Lorem Foundation
With
The Hospital for Sick Children
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
Age
Any age
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible 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 be 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
Clareo Health | Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)
