Active not recruitingPHASE1, PHASE2INTERVENTIONAL

Investigation of Individualised Antisense Oligonucleotides (ASOs) in People With Unique Genetic Variants Causing Severely Debilitating, Life Threatening (SDLT) Central Nervous System (CNS) Conditions

This research is investigating a new type of medicine called an individualised antisense oligonucleotide (ASO) for children aged 1 year and older. These children have very serious and life-threatening conditions affecting their brain and nervous system, which are caused by a unique genetic problem. The study aims to see if these custom-made ASOs can help to correct this specific genetic issue. This is an early-stage study (Phase 1/2) to understand if the treatment is safe and how well it might work. Participants will go through a check-up period, followed by receiving the treatment over 48 weeks, with careful monitoring afterwards. The goal is to see if this new approach can improve their condition and quality of life.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

EveryONE Medicines Inc.

Enrolment target

Start

13 Jan 2026

Estimated completion

31 Oct 2026

Pediatric SDLT CNS Disorders

What is this study about?

This study is looking into a new way to treat very serious and life-threatening conditions that affect a person's brain and nervous system. These conditions are often caused by a unique problem in a person's genes. Imagine your genes as an instruction manual for your body; sometimes there's a typo. This study explores if a new, specially designed medicine, called an antisense oligonucleotide (ASO), can help correct these unique genetic typos.

These ASOs are like tiny, custom-made tools that can target and fix specific genetic errors. Because each person's genetic problem might be slightly different, these ASOs are designed to be individualised, meaning they are custom-built for each participant's specific genetic issue. Researchers hope that by addressing the root cause of the problem at a genetic level, they can help improve the condition and quality of life for those affected.

This is a Phase 1/2 study, which means it's an early step in testing a new medicine. It helps doctors understand if the medicine is safe, what the right dose might be, and if it shows any signs of working. The study is particularly focused on children aged one year and older who have these severe conditions. The hope is to find a treatment that can either stop the condition from getting worse or even help improve it.

Key takeaways

This study explores a new, custom-made medicine (ASO) for serious brain and nerve conditions.
It targets unique genetic problems, aiming to improve or slow disease progression.
The study involves children aged 1 and up with severe, life-threatening conditions.
It's an early-stage study (Phase 1/2) to check safety and initial effectiveness.
Participation includes screening, a run-in period, 48 weeks of treatment, and follow-up.
Potential benefits include a new treatment option; risks are still being evaluated.

Who may be eligible?

This study is for children aged 1 year and older who have very serious and life-threatening conditions affecting their brain and nervous system. These conditions must be caused by a unique genetic problem that doctors believe could be helped by the new medicine being tested.

For a child to be considered, their condition must be severe enough that their doctor thinks halting or slowing its progress could significantly improve their life. Also, existing treatments should not have provided much benefit. The first child in the study must be between 1 and 17 years old when they receive the medicine.

There are some reasons why someone might not be able to join. For example, if they have other serious health problems that could make the study unsafe, or if they've recently had similar treatments or cannot have certain medical scans or procedures. This includes any issues that would prevent having MRI scans, sedation, anaesthesia, or spinal fluid procedures (lumbar punctures).

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.

Is the child aged 1 year or older?
Does the child have a very serious brain or nervous system condition?
Is this condition caused by a unique genetic problem?
Do ongoing genetic tests show this gene problem can be targeted by an ASO?
Have other treatments not helped much?
Is the child generally healthy apart from their main condition (no other serious illnesses)?

Answer every question to see your result.

What does participation involve?

Taking part in this study involves a few steps. First, there's a 'Screening period' of about 30 days, where doctors will do checks to make sure the study is right for you or your child. This is followed by a 'Run-in period' of at least four weeks. Only if everything looks suitable will you move on to receiving the treatment.

If you qualify, you will then enter the 'Treatment period', which lasts for 48 weeks (about 11 months). During this time, you will receive the individualised ASO medicine. After the treatment period, there will be a 'Safety Follow-up' period where doctors will monitor your health and how the treatment has affected you. The total duration from the initial checks to the end of follow-up will vary but includes a significant treatment phase and subsequent monitoring. You'll have regular hospital visits for assessments and to receive the medicine, which involves specific procedures.

Potential risks and benefits

Participating in this study might offer the potential benefit of a new treatment for very serious conditions, which current therapies may not have effectively helped. The ASO medicine is designed to target the unique genetic cause of the condition, potentially slowing its progression or even improving symptoms. However, as with any new medicine, there are potential risks and side effects that are not yet fully known, as this is an early-stage study. Doctors will monitor participants very closely for safety. You always have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Great Ormond Street Hospital
Verified postcode
London, United Kingdom

Common questions

What is an ASO?

An ASO is a specially designed medicine that can target and correct specific genetic problems in the body.

Why are these ASOs called 'individualised'?

They are custom-made for each person because their specific genetic problem is unique.

Which conditions are being studied?

The study focuses on very serious and life-threatening brain and nervous system conditions caused by unique genetic changes.

Who can join the study?

Children aged 1 year and older with these specific conditions, whose doctors believe the ASO could help, and who meet other health requirements.

How long does the treatment part of the study last?

The main treatment phase lasts for 48 weeks (about 11 months), following initial checks.