Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorBoston Children's Hospital
About this trial
The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Seizure onset at less than 12 months of age
Enrollment within 6 weeks of seizure-related presentation
Patient at Boston Children's Hospital
Disqualifiers
Simple febrile seizures
Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury)
Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex)
Deceased prior to enrollment
Trial design
Design model
Single group
Treatments tested in this trial
Genomic Sequencing
GeneticGenomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
Treatment groups
600 Participants
are divided into 1 treatment groupGroup A: Genomic SequencingExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Diagnostic Yield
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled infants with epilepsy who receive a genetic diagnosis.
Time frame
Collected after return of genetic results approximately 2 weeks after infant is enrolled2
Short-term clinical utility of genetic testing
The short-term clinical utility of genetic testing will be evaluated using the validated C-GUIDE measure. The C-GUIDE total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame
Collected after return of genetic results approximately 2 weeks after infant is enrolled3
Parent-perceived (personal) utility of genetic testing
The parent-perceived utility of genetic testing will be evaluated using the validated GENE-U measure. The GENE-U total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame
Collected when infant is 2.5 years oldSecondary outcomes
1
Developmental progress
Developmental progress will be evaluated using the Bayley Scales of Infant and Toddler Development Fourth Edition. The cognitive, language, and motor subscale scores will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame
Collected when infant is 2.5 years old2
Seizure frequency
The seizure frequency will be evaluated using the seizure frequency outcome measure developed by the American Academy of Neurology and dichotomized as decrease vs no decrease between the two timepoints. The percentage of infants with this outcome will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame
Collected at return of genetic results approximately 2 weeks after infant is enrolled and when infant is 2.5 years old3
Parental experiences with genetic testing
This outcome will be evaluated using a qualitative approach. Semi-structured interviews will be performed with a subset of parents using purposive sampling and will be analyzed using a grounded theory iterative approach.
Time frame
Collected when infant is 2.5 years oldSponsors and contacts
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Source ClinicalTrials.gov