CACNA1A Foundation

Cycle 2

Web:

Contact:

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 04/30/2026

Clinical

Disease Class

Channelopathies

Epilepsy and seizure disorders

Genetic diseases

Intellectual disability and developmental syndromes

Neurological diseases

Body Systems

Nervous / Sensory

Organs

Brain

Known Genetic Link

Yes, one or more genes directly cause the condition

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

De novo

Newborn Screening

Disease Mechanism(s)

Abnormal channel regulation

Altered channel kinetics

Calcium signaling defect

Ion channel dysfunction

Pathogenic mutation

Protein misfolding

Age of Onset

Early childhood (age 1+-5)

Infancy (age 0-1)

Average Age at Diagnosis

Early childhood (age 1+-5)

Middle childhood (6-11)

Life Expectancy

Elderly (age 65+)

Affected Sex(es)

Female

Male

National Prevalence

Unknown

Global Prevalence

Unknown

National Incidence

Less than 10

Global Incidence

Less than 10

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

Off-Label Drug Use

Other

· AEDs such as Keppra, lamotrigine; also rescue drugs such as ketamine, steroids, acetazolamide for hemiplegic migraines

Regulatory Agency-Approved for Symptom Relief

· acetyl-dl-leucine, verapamil, topiramate, diamox (acetazolamide)

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Gene therapy

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In research/exploratory phase

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Cell Lines, Institution

COMBINEDBrain

Jackson Laboratories (JAX)

StemBancc

Cell Lines, Involvement

Consulted

Designed

Funded

Own

Cell Lines, share

Some of our cell lines are freely available

Disease Model

C. elegans

Drosophila/fly

Mouse

Zebrafish

Disease Model, Involvement

Consulted

Designed

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

We are starting to make good progress in this area. Hoping the next two years bring some new developments.

Clinical Trial Role

Not involved

Clinical Trial Types

Phase 4

Biobank, Institution

COMBINEDBrain

Van Andel Institute

Biobank, Involvement

Designed

Funded

Center of Excellence, Institution

UTHealth Houston (The University of Texas Health Science Center at Houston)

Center of Excellence, Involvement

Consulted

Registry

No, we do not have a registry and have no plans 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

Citizen Health

RARE-X

REDCap

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Yes, we have guidance available on our website

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None