Dravet syndrome with SCN1A gene mutation is a developmental and epileptic encephalopathy characterized by treatment-resistant epilepsy and global developmental delay.
Despite the considerable attention recently Dravet syndrome (DS) in drug development, studies characterising the progression of the neurodevelopmental phenotype over time remain limited. In particular, many previous studies of natural history studies have been of short duration or have focused only on a subgroup of the paediatric population.
This prospective natural history study is being conducted to define more precisely the neurodevelopmental trajectory of SCN1A-positive Dravet syndrome in patients aged aged 6 months to 21 years with SCN1A mutations. The study will examine these characteristics over a 4-year period using standardised assessments. The study will also explore potential metabolomic biomarkers and their relationship with clinical outcomes.
The patient or his/her legal representative must be able to give informed consent for participation in the study.
The participant or legal representative are able (in the opinion of the investigator) to comply with the research protocol.
Patient (male/female) between 6 months and 21 years of age inclusive at the time of consent.
The patient has a confirmed pathogenic or probably pathogenic variant of the SCN1A gene demonstrated by a genetic test.
The patient has a copy number variation of the SCN1A gene affecting other genes, including a microdeletion of SCN1A.
The patient has a mutation in the SCN1A gene on both alleles.
The patient has a known or clinically suspected pathogenic mutation in a gene associated with epilepsy other than the SCN1A gene.
The patient has a concomitant genetic mutation or clinical comorbidity deemed likely to disrupt the typical phenotype of Dravet syndrome.
Patients aged 6 months to 21 years with Dravet syndrome due to a pathogenic or probably pathogenic variant of the SCN1A
Cohort
Prospective
Not listed
Score of scale Vineland-3
Change in adaptive function measured by the Vineland-3 over time at 1, 2, 3 and 4 years follow-up (160 is the maximum score and 20 is the minimum score - the higher score is the better outcome)
Score of scale Gross Motor Function Measure-66 (GMFM-66)
Changes in motor function and activity measured by the GMFM-66 Max value:201 Min value:0 Higher score is the better outcome
Score of scale Bayley-IV sub-domains
To study the evolution of adaptive capacities over time in Dravet syndrome by changes in raw score for Bayley-IV sub-domains (160 is the maximum score and higher score and 40 is the minimum score - the higher score is the better outcome)
Average Clinical Global Impressions (CGI) scale score at each age
To understand the severity of Dravet syndrome with SCN1A mutation (Rating by the investigator, where 1 is the best outcome and 7 is the worst outcome)
Score of improvement scale
To understand the severity of Dravet syndrome with SCN1A mutation and how this severity changes with age. (Rating by the investigator, where 1 is the best outcome and 7 is the worst outcome)
Click on the lead sponsor to view all of their trials.
Assistance Publique - Hôpitaux de Paris
Lead sponsor
Encoded Therapeutics
Collaborator
