Research

Clinical trials, SCN2A and DEE.

Clinical trials are how new treatments get tested, approved, and eventually made available to families. For a condition as rare as SCN2A, trial participation by eligible families is one of the most direct ways to accelerate the path to approved therapies.

TABLE LAST REVIEWED · MARCH 2026REVIEWED QUARTERLYALWAYS DISCUSS WITH YOUR NEUROLOGIST FIRST

GoF / LoF, why this matters for trial eligibility

For SCN2A families, whether your child has a gain-of-function (GoF) or loss-of-function (LoF) variant is critical to trial eligibility, and to medication safety.

GoF variants, channel overactive. Sodium channel blockers and ASOs targeting SCN2A expression are appropriate. Same treatments can be harmful in LoF.
LoF variants, channel underactive. Treatments that increase or compensate for reduced function are the focus. Sodium channel blockers are contraindicated.

If you are unsure of your child's variant type, speak with your neurologist or genetic counsellor before enquiring about any trial. Read our genetics guide

SCN2A-specific trials

The current SCN2A trial landscape.

PHASE 3 · REGISTRATIONAL

Elsunersen (PRAX-222), EMBRAVE / EMBRAVE3

Antisense oligonucleotide · Praxis Precision Medicines

GoF only

Sponsor	Praxis Precision Medicines
Eligible variants	Gain of function (GoF) only
Conditions	Early-onset SCN2A-DEE
Status	Actively enrolling, EMBRAVE3 converted to single-arm, open-label design (December 2025); all participants receive active treatment
Where	International multi-site, see embravestudy.com for current sites
Topline results expected	H1 2026 (EMBRAVE Part A); ongoing enrolment for EMBRAVE3

Elsunersen is an ASO designed to selectively reduce SCN2A gene expression, directly targeting the underlying mechanism of early-onset SCN2A-DEE in patients with GoF variants. Administered by lumbar puncture (intrathecal injection). The EMBRAVE Phase 1/2 study reported a 44% median seizure reduction following three doses. EMBRAVE3 is the registrational Phase 3 study; the FDA agreed in December 2025 to a simplified, single-arm design with 30 participants, all receiving active treatment.

EMBRAVE study site Praxis pipeline

PHASE 2/3 · NDA SUBMITTED EARLY 2026

Relutrigine (PRAX-562), EMBOLD

Persistent sodium current inhibitor · Praxis Precision Medicines

LoF · SCN2A + SCN8A

Eligible variants	Loss of function (LoF), SCN2A-DEE and SCN8A-DEE
Conditions	SCN2A-DEE (LoF), SCN8A-DEE
Status	Trial stopped early for efficacy; NDA submitted to FDA in early 2026. Not actively enrolling new participants in the original trial, open-label extension ongoing.
FDA designations	Breakthrough Therapy · Orphan Drug · Rare Pediatric Disease

First-in-class small molecule that preferentially inhibits persistent sodium current, a key driver of seizures in SCN2A-DEE (LoF) and SCN8A-DEE. The EMBOLD Phase 2/3 study was stopped early after a Data Monitoring Committee recommendation based on strong efficacy, a 53% placebo-adjusted seizure reduction alongside improvements in behaviour and function. An NDA has been submitted to the FDA. If approved, this would be the first drug specifically indicated for SCN2A-DEE.

Broader DEE trials

May be open to SCN2A families.

Not SCN2A-specific but open to participants with a range of DEE diagnoses. Eligibility varies, always confirm with the trial team and your neurologist.

PHASE 2/3 · RECRUITING

LP352, DEEp OCEAN Study

5-HT2c receptor superagonist · Longboard Pharmaceuticals

The only 5-HT2c receptor superagonist in development dose-optimised for refractory epilepsy populations. Double-blind, placebo-controlled, multi-centre trial investigating efficacy in children and adults with DEE, including Dravet, Lennox-Gastaut, and other DEEs. SCN2A families with a DEE diagnosis may be eligible.

View on ClinicalTrials.gov

OPEN-LABEL EXTENSION · NOT RECRUITING NEW

Soticlestat (TAK-935)

CH24H inhibitor · Takeda Pharmaceuticals

Inhibits cholesterol 24-hydroxylase, involved in regulating neuronal excitability. Phase 3 trials showed mixed results on primary endpoints for Dravet and Lennox-Gastaut syndromes. The open-label extension is ongoing for prior participants. Not currently recruiting new participants, listed here for information only.

Pipeline

Not yet in clinical trials.

Preclinical or early-stage approaches, listed so families can follow the pipeline and understand what may be coming.

GENE THERAPY · PRECLINICAL

RT-102, Regel Therapeutics

Gene therapy for SCN2A haploinsufficiency (LoF). Uses a deactivated CRISPR-Cas system (dCas) to epigenetically upregulate SCN2A expression without editing or damaging the DNA. The leading gene therapy approach for LoF variants.

Pipeline

INDIVIDUALISED ASO · ACCESS PROGRAM

n-Lorem Foundation

Develops bespoke antisense oligonucleotide therapies for individual patients with ultra-rare genetic conditions. Two SCN2A-DEE participants have been treated under compassionate/individual access. Not a clinical trial.

n-Lorem Foundation

CRISPRa · RESEARCH STAGE

CRISPRa gene activation

Researchers are investigating CRISPR-activation approaches to restore SCN2A expression in LoF patients. Early-stage laboratory research, no clinical programme announced.

Finding out more

Where to look next.

Talk to your neurologist first. Trial eligibility is complex, your child's treating team needs to assess whether a trial is appropriate based on variant type, age, seizure history, current medications, and other clinical factors.

Useful trial-finding resources

SCN2A Australia does not enrol families into trials directly. We can help you understand the landscape and connect you with the right clinical contacts.

Stay connected

Families on the registry may be contacted about relevant trial opportunities as they arise.

It is one of the most practical things you can do now to stay connected to the research pipeline.

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