Lennox-Gastaut Syndrome (LGS) Foundation
Cycle 1
Lennox-Gastaut Syndrome (LGS) is a severe epilepsy syndrome that develops in young children and often leads to lifelong disability. Most people with LGS have seizures that begin in the first three years of life and will have developmental delay within five years of seizure onset.
Last updated May 2024
Clinical
Disease Class
Rare developmental anomalies during embryogenesis
Rare diseases due to toxic effects
Rare genetic diseases
Rare immunological diseases
Rare inborn errors of metabolism
Rare infectious diseases
Rare neoplastic diseases
Rare neurological diseases
Body Systems
Nervous / Sensory
Organs
Brain
Genes
ARX
CACNA1A
CDKL5
CHD2
DCX
GABRA3
GABRB3
GRIN1
GRIN2
GRIN2A
GRIN2B
IQSEC2
KCNMA1
KCNT1
KIF1A
LIS1
PCDH19
SCN1A
SCN1B
SCN2A
SCN8A
SHANK3
SLC13A5
SLC1A2
STXBP1
SYNGAP1
WDR45
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
Disease Mechanism(s)
Unknown
Age of Onset
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Prebirth
Incidence
11-50
Prevalence
10000+
Populations and/or ancestry with higher prevalence
More common in boys than girls.
Symptoms / Phenotypes
behavioral changes
cognitive impairment / confusion / brain fog
developmental delay
seizures / epilepsy
Biomarkers
Diagnostic
· Slow spike and wave on the EEG, Generalized paroxysmal fast activity on the EEG, tonic seizures
Monitoring
· Seizures
Prognostic
· Worsening or improvement of the EEG, Cessation of Seizures, Later onset of seizures is often less severe; Slow spike and wave on EEG, Generalized Paroxysmal Fast Activity on EEG
Therapeutic
· Seizures, Drop Seizures
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· Keto/LGI/Atkins/Mod Atkins Diets, Medical Marijuana, many more
Drugs approved for the symptoms
Drugs used off-label
· Too many to list. Every seizure treatment known to humankind
Expanded access to drugs
· Seizure treatments.
Other
· Vagus Nerve Stimulation, Brain Surgeries, Other Devices
Organizational & Research
Cell Lines
None
Cell Lines, location
None
Cell Lines, share
N/A
Disease Model
Mouse
Disease Model, location
Northwestern University
Vanderbilt University
Disease Model, share
Yes
Clinical Trial Role
Data analysis
Data sharing
Focus group
Funding
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Travel coordination
Biobank
None
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Other
Platform, Registry
RARE-X
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
IAMRARE
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Director of Operations/Director of Development
Executive Director
Patient Engagement Manager/Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None