Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)
This research project is testing a brand-new, carefully made medicine specifically for one individual with a rare condition called Schuurs-Hoeijmakers Syndrome (SHMS). SHMS is caused by a particular change in their PACS1 gene. The medicine is called an 'antisense oligonucleotide' (ASO) and is designed to target this specific genetic change. The study aims to find out if this personalised medicine is safe to use and if it can help improve the person's condition. It's an early-stage study, meaning it's one of the first times this kind of treatment is being tried, and it's custom-built for one patient's exact genetic make-up.
At a glance
What is this study about?
This study is about a very specific and rare condition called Schuurs-Hoeijmakers Syndrome (SHMS). This syndrome happens because of a particular change, or 'mutation,' in a gene called PACS1. When this gene changes, it doesn't work quite right, which then leads to the symptoms of SHMS.
The researchers are trying a brand-new approach. They have developed a special medicine called an 'antisense oligonucleotide,' or ASO for short. Think of it like a very precise key that can only fit one specific lock – in this case, the specific genetic change in the PACS1 gene that causes SHMS. This particular medicine, called nL-PACS1-001, has been custom-made for just one person, designed to correct the problem caused by their unique gene change.
The main goal of this research is to see if this personalised medicine is safe for the individual and if it can help improve their symptoms or condition. Because this is a very new type of treatment and it's tailored to one person, it's considered an early-stage study (Phase 1 and 2). This means the researchers are carefully checking every step to make sure it's safe before they can consider it for more people in the future.
Key takeaways
- This is an early-stage study testing a new, personalised medicine for one person.
- The medicine is designed to target a specific genetic change causing Schuurs-Hoeijmakers Syndrome (SHMS).
- The main goals are to check the medicine's safety and see if it helps improve the condition.
- Participation requires specific genetic confirmation of SHMS and ability to attend appointments.
- The study involves close monitoring over a period of up to two years.
- It's a voluntary study, and you can withdraw at any time.
Who may be eligible?
This study is looking for only one participant who meets very specific criteria due to the personalised nature of the treatment.
To be considered, the participant must have Schuurs-Hoeijmakers Syndrome (SHMS) that has been officially confirmed by genetic testing. Specifically, the condition must be caused by a particular change in their PACS1 gene, known as c.607C>T (p.Arg203Trp). The participant's parent(s) or legal guardian must provide their agreement to take part.
It's also important that the participant and their family are able to travel to the study site for appointments and follow-up checks. They must also be able to share their medical records with the study team. People who are currently taking part in another medical study or have been in one within the last three months, or who have any other medical condition that might make it hard to complete the study, would not be able to join this particular research.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Do you have a confirmed diagnosis of Schuurs-Hoeijmakers Syndrome (SHMS)?
- Has genetic testing shown your SHMS is caused by the specific PACS1 gene change c.607C>T (p.Arg203Trp)?
- Are your parent(s) or legal guardian willing to give consent for you to take part?
- Can you travel to the study site for regular appointments?
- Are you able to share your medical records with the study team?
- Are you currently involved in another clinical trial, or have you been in one in the last three months?
What does participation involve?
If you are eligible and decide to take part, you'll be given the special medicine called nL-PACS1-001. The study team will explain exactly how and when this medicine will be given. You would need to attend regular appointments at the study site so the medical team can closely monitor your health and how the medicine is affecting you. These visits will involve various check-ups and possibly some tests to make sure the medicine is safe and to see if it's helping. The study expects to follow participants for up to 24 months, which is two years, to fully understand the effects of the treatment.
Potential risks and benefits
Locations (1)
- The Hospital for Sick Children (SickKids)Verified postcodeToronto, Canada
Common questions
What is Schuurs-Hoeijmakers Syndrome (SHMS)?
SHMS is a rare condition caused by a change in a gene called PACS1, which affects how the body develops and functions.
What is an 'antisense oligonucleotide' (ASO)?
It's a special type of medicine designed to specifically target and correct errors in a person's genes, like a very precise key.
Why is this medicine called 'personalised'?
Because it's custom-made to address the unique genetic change in the PACS1 gene of one specific individual, rather than being a standard medicine for everyone.
How long will the study last?
The study is planned to follow the participant for up to 24 months, which is two years.
Can anyone with SHMS join this study?
No, this specific study is for one person whose SHMS is caused by a very particular change in the PACS1 gene (c.607C>T (p.Arg203Trp)).
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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