One-Patient trial aims to treat Ultra-Rare genetic disorder
NCT ID NCT07474298
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant will be enrolled, and the study will track changes over two years.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- personalized antisense oligonucleotide (nL-PACS1-001)
- What this could lead to
- If it works, this could point toward a treatment for Schuurs-Hoeijmakers syndrome, potentially improving communication and motor skills.
- What could go wrong
- This is a very early, single-participant study, so results may not apply to others. The treatment is experimental and may not work or could cause unexpected side effects.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
The Hospital for Sick Children (SickKids)
Toronto, Ontario, M5G 1X8, Canada