UK OnlyETX101 Gene Therapy for Children with SCN1A-positive Dravet Syndrome
This study aims to evaluate the safety and effectiveness of ETX101 gene therapy in improving adaptive behavior and monitoring side effects in children with SCN1A-positive Dravet Syndrome over 52 weeks.
ETX101
Epileptic Syndromes+4
+ Brain Diseases
+ Central Nervous System Diseases
Treatment Study
Summary
Study start date: May 9, 2024
Actual date on which the first participant was enrolled.This clinical study focuses on evaluating a new gene therapy treatment called ETX101 for young children diagnosed with SCN1A-positive Dravet Syndrome. Dravet Syndrome is a severe form of epilepsy that begins in infancy and can lead to other health challenges. The study aims to assess both the safety and effectiveness of this treatment in children aged from 6 months to just under 4 years. By exploring this new treatment, the study hopes to find a way to manage or reduce the symptoms of Dravet Syndrome, potentially improving the quality of life for affected children and their families. Participants in this study will receive the ETX101 treatment through a method known as AAV9 delivery, which is a type of gene therapy. Since this is an open-label study, all participants and researchers will know who receives the treatment. The study follows a dose-escalation design, meaning that different groups of participants may receive different amounts of the treatment to find the most effective and safe dosage. The primary focus is on ensuring the treatment is safe for the children, while also observing any changes in their condition to assess how well the treatment works.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.5 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Treatment Study
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.From 6 to 47 Months
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
Inclusion Criteria: * Participant has a predicted loss of function pathogenic or likely pathogenic SCN1A variant * Participant must have experienced their first seizure between the age of 3 and 15 months * Participant must have a clinical diagnosis of Dravet syndrome or the treating clinician must have high clinical suspicion of a diagnosis of Dravet syndrome * Participant is receiving at least one prophylactic antiseizure medication Exclusion Criteria: * Participant has another genetic mutation or clinical comorbidity which could potentially confound the typical Dravet phenotype * Participant has a known central nervous system structural and/or vascular abnormality (indicated by an MRI or CT scan of the brain). * Participant has an abnormality that may interfere with CSF distribution and/or has an existing ventriculoperitoneal shunt. * Participant is currently taking or has taken antiseizure medications (ASMs) at a therapeutic dose that are contraindicated in Dravet syndrome, including sodium channel blockers. * Participant has experienced seizure freedom for a period of 4 consecutive weeks within the 90-day period prior to informed consent. * Participant has previously received gene or cell therapy. * Participant is currently enrolled in a clinical trial or receiving an investigational therapy. * Participant has clinically significant underlying liver disease.
Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.4 intervention groups are designated in this study
This study does not include a placebo group
Treatment Groups
Group I
ExperimentalGroup II
ExperimentalGroup III
ExperimentalGroup IV
ExperimentalStudy Objectives
Primary Objectives
Secondary Objectives
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 3 locations
Great Ormond Street Hospital
London, United KingdomSheffield Children's Hospital
Sheffield, United Kingdom