EXPEDITION: A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Infants and Children with SCN1A-Positive Dravet Syndrome
Recipient organisationNIHR Great Ormond Street Hospital Clinical Research Facility
NIHR supportRecorded as supported by this research centre
PeriodMar 2025 — Oct 2029
In plain English
AI plain-English summary
A new gene therapy will be injected directly into the brains of four children with Dravet syndrome, aiming to restore the sodium channels their brain cells need to communicate properly. Dravet syndrome is a severe, lifelong form of epilepsy that begins in infancy. It is caused by a faulty SCN1A gene, which means the brain cannot make enough sodium channels. Without these channels, neurons misfire, leading to frequent, drug-resistant seizures, developmental delays, and a high risk of sudden unexpected death. Current treatments manage symptoms but do not fix the underlying genetic cause. This study, called EXPEDITION, tests ETX101—a gene therapy delivered by an AAV9 virus—in children aged 6 months to 4 years. The therapy introduces genetic material that instructs cells to produce more sodium channels. If it works, the brain’s electrical signalling could normalise, reducing or eliminating seizures and improving development. The trial involves a single injection into the fluid around the brain, followed by five years of monitoring including blood tests, spinal fluid samples, heart checks, and neurological assessments. If successful, this approach could transform Dravet syndrome from a devastating, life-shortening condition into a manageable one—and provide a blueprint for gene therapies targeting other genetic brain disorders.
View original technical description
This study, called the EXPEDITION study, is to test the safety of a new gene therapy drug, ETX101 for the treatment of Dravet Syndrome. The study will also look to see if the drug has signs that it works in treating Dravet Syndrome. People with Dravet Syndrome do not make enough sodium channels within the cells of their brain. Sodium channels allow brain cells to communicate correctly and so people with Dravet Syndrome brain cells don’t communicate with each other as they should causing the symptoms of the disease. This gene therapy will introduce genetic material, chemical structures carrying genetic information, so that the body makes more sodium channels within the brain. It is possible that these brain cells will then communicate with each other as they should and reduce/eliminate some of the symptoms of Dravet syndrome. The study will be performed in children aged 6 months to 4 years old and it is planned that 4 children will be enrolled in the study. EXPEDITION will be performed in the UK, with 3 hospital sites involved in recruiting patients. The plan for the study is that it will be 5 years long with most of the visits occurring in the first year. Over this study there is approximately 5 in hospital stays ranging from 1-4 days each. Potential participants would complete a number of screening assessments to ensure they are eligible to take part in the study. For participants who are eligible, they will receive the study drug on day 1 via an injection of the drug directly into the brain, by what is called an ICV injection. Once on the study, a number of assessments will be performed with the participants including taking/collecting blood, urine, stool, saliva samples, as well as fluid from the spinal cord to check participants health and see how/if the drug is working. Assessments to measure blood pressure and looking at the performance of the heart as well as neurological assessments also to check participants health and the effect of the drug.
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