CACNA1A Foundation
Cycle 2
CACNA1A is a very large gene on the 19th chromosome. Variations in this gene can cause neurodegenerative disease and a variety of neurological symptoms.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Nervous / Sensory
Organs
Brain
Genes
CACNA1A
Type of Inheritance
Autosomal dominant
De novo
Disease Mechanism(s)
Calcium channel defects
Ion channel dysfunction
Age of Onset
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Incidence
51-100
Prevalence
10000+
Symptoms / Phenotypes
anxiety
attention disorders / ADHD
autism
autistic behavior
cerebellar atrophy
cerebral edema
cognitive impairment / confusion / brain fog
coma
depression
developmental delay
headaches / migraines
hypotonia
intellectual disability
movement disorders / ataxia / tremor
nystagmus
obsessive compulsive disorder (OCD)
seizures / epilepsy
stroke
Biomarkers
None
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· acetlyleucine (not in US)
Drugs approved for the symptoms
Other
· AEDs are trial and error but include keppra, epidiolex, vagus nerve stimulation therapy
Organizational & Research
Cell Lines
iPSCs
LCLs
Cell Lines, location
StemBancc
Cell Lines, share
Yes
Disease Model
C. elegans
Drosophila/fly
Mouse
Zebrafish
Disease Model, location
Columbia University
Jackson Laboratories (JAX)
University of Leiden
Yale University
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
COMBINEDBrain
Van Andel Institute
Center of Excellence
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Invitae Patient Insights Network
RARE-X
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None