International SCN8A Alliance

Cycle 3

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An SCN8A mutation can lead to a range of issues relating to brain development and physical health with a wide array of impacts on the body’s systems and functions. Some with SCN8A experience no seizures, while others have treatment resistant epilepsy.

Last updated 04/30/2026

Clinical

Disease Class

Channelopathies

Epilepsy and seizure disorders

Gastroenterological diseases

Genetic diseases

Intellectual disability and developmental syndromes

Mitochondrial disease

Multi-system genetic syndromes

Muscular and neuromuscular diseases

Neurological diseases

Peroxisomal disorders

Respiratory diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Respiratory

Organs

Bladder

Bones

Brain

Esophagus

Heart

Intestines

Kidneys

Lungs

Mouth / teeth

Muscles

Nerves

Spinal cord

Stomach

Trachea, cervical

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

SCN8A

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

Newborn Screening

Disease Mechanism(s)

Abnormal channel conductance

Abnormal channel regulation

Altered channel kinetics

Ion channel dysfunction

RNA processing/splicing defect

Age of Onset

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Average Age at Diagnosis

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

Symptoms / Phenotypes

attention disorders / ADHD

autism

autonomic nervous system problems

behavioral changes

constipation

developmental delay

feeding difficulties

gastrointestinal disorders

hypotonia

intellectual delay / global developmental delay

movement disorders / ataxia / tremor

seizures / epilepsy

sleep disorders

speech delay

vision problems

Biomarkers

None

Existing Therapies

Complementary and Alternative treatments

· dietary treatment and CBD

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· approximately 20 anti-seizure medication

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

· 1 Bloom SCience

Gene therapy

· 1 - U MIch/CRISPR

RNA interference (RNAi) therapy (siRNA, etc.)

· 1 - Stellula STEL8

Repurposed drug

· 1- Candesartan

Small molecule therapy (novel small molecule drugs)

· 4 Luncdbeck-Bexacaserin, Praxis-Relutragine, Neurocrine-NBI-355, Columbia-Elixir

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Cell Lines, Institution

Columbia University

Tufts University

University of Arizona

University of Virginia (UVA)

Cell Lines, Involvement

Consulted

Cell Lines, share

Some of our cell lines are freely available

Disease Model

Mouse

Organoids

Disease Model, Involvement

Consulted

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Challenge of widely varying cultures in various pharma partners in how genuinely or superficially they partner with patient organizations.

Clinical Trial Role

Data analysis

Data sharing

Focus group

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Clinical Trial Types

Phase 1

Phase 2

Phase 3

Biobank, Institution

University of Maryland School of Medicine

Biobank, Involvement

Consulted

Center of Excellence, Institution

Boston Children's Hospital

Children's Hospital of Colorado

Children's National Hospital

Center of Excellence, Involvement

Consulted

Designed

Funded

Registry

Yes, we have collaborated on a registry

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

Both

Platform, Registry

REDCap

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Other

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

REDCap

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

We have taken formal steps to schedule a meeting

ICD Codes

No, we do not have any ICD codes

Diagnostic Guidelines

Yes, we have guidance available on our website

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Asia

Europe

North America

Oceania

South America

None