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.
Disclaimer
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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Locations
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The Hospital for Sick Children (SickKids)
Toronto, Ontario, M5G 1X8, Canada