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.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
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About 1 person
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Apr 2026
An estimate. Start dates often move.
- Expected to finish
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Apr 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Schuurs-hoeijmakers syndrome are added.
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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.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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The Hospital for Sick Children (SickKids)
Toronto, Ontario, M5G 1X8, Canada