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Not yet recruiting NCT07474298

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

Phase I / Phase II Interventional Schuurs-Hoeijmakers Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: nL-PACS1-001.
Who it may be relevant to
Registry conditions: Schuurs-Hoeijmakers Syndrome. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Canada
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

An Open-label Single Center Study of an Experimental Antisense Oligonucleotide Treatment of a Participant With Schuurs-Hoeijmakers Syndrome Due to PACS1 Genetic Mutation

Overview

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

Detailed 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

Interventions

  • Drug nL-PACS1-001
    Personalized antisense oligonucleotide

Primary outcome measures

  • Communication Ability [Time frame: Baseline to 24 months]
  • Communication Ability [Time frame: Baseline to 24 months]
  • Communication Ability [Time frame: Baseline to 24 months]
Secondary outcome measures (8)
  • Fine Motor Skills [Time frame: Baseline to 24 months]
  • Fine Motor Skills [Time frame: Baseline to 24 months]
  • Fine Motor Skills [Time frame: Baseline to 24 months]
  • Fine Motor Skills [Time frame: Baseline to 24 months]
  • Safety and Tolerability [Time frame: Baseline to 24 months]
  • Incidence of Treatment-Emergent Abnormalities in Physical Exam [Safety and Tolerability] [Time frame: Baseline to 24 months]
  • Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability] [Time frame: Baseline to 24 months]
  • Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability] [Time frame: Baseline to 24 months]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Treatment

Study locations

Canada · 1 center
  • The Hospital for Sick Children (SickKids) — Toronto

Identifiers

NCT: NCT07474298 · NLF-HC-0001

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗