Lafora disease is the most severe form of human epilepsy. It is an inherited myoclonus epilepsy syndrome. Although a child is born with Lafora, they may grow up normally with no perceivable problems until they begin to suffer with seizures during adolescence.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare inborn errors of metabolism
Rare neurological diseases
Body Systems
Cardiovascular / Circulatory
Metabolic
Muscular / Skeletal
Nervous / Sensory
Respiratory
Organs
Brain
Heart
Genes
EPM2A
NHLRC1
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Abnormal protein degradation
Glutamate pathway malfunction
Glycogen pathway dysregulation
Glycogen storage disease
Glycosylation disorder
Inborn errors of metabolism
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Incidence
Less than 10
Prevalence
11-50
Populations and/or ancestry with higher prevalence
Mediterranean Region: Italy, Spain, Greece, Turkey; Middle East: Arabian Peninsula; Pakistan & India
Symptoms / Phenotypes
behavioral changes
cognitive decline
cognitive impairment / confusion / brain fog
dementia
depression
dysarthria
movement disorders / ataxia / tremor
respiratory insufficiency / respiratory failure
seizures / epilepsy
Biomarkers
Diagnostic
· skin biopsy of Lafora bodies/ genetic testing for genes
Monitoring
· EEG
Prognostic
· EEG
Existing Therapies
Drugs used off-label
· Metformin
Expanded access to drugs
· Val-1221 (a combination of enzyme replacement therapy with an antibody)
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Instituto de Biomedicina de Valencia
Jackson Laboratories (JAX)
University of California San Diego (UCSD)
University of Florida
University of Texas Southwestern Medical Center (UTSW)
Cell Lines, share
Unknown
Disease Model
Dog
Mouse
Disease Model, location
Indiana University
University of Texas Southwestern Medical Center (UTSW)
Disease Model, share
Unknown
Clinical Trial Role
Data sharing
Funding
Outcome measures, development
Recruitment and outreach, patients
Travel coordination
Biobank
None
Center of Excellence
University of Texas Southwestern Medical Center (UTSW)
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
Other
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Imaging data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
We have taken formal steps to schedule a meeting
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Executive Director
Registry Coordinator
Research/Scientific Director
Science Advisory Board Policies
Does not have an SAB
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies