Personalized antisense oligonucleotide therapy for rare pediatric genetic disease: SCN2A

Return to Grants

Grant Award Details

Grant Number:
Disease Focus:
Award Value:

Grant Application Details

Application Title:

Personalized antisense oligonucleotide therapy for rare pediatric genetic disease: SCN2A

Public Abstract:
Therapeutic Candidate or Device

Investigational personalized antisense oligonucleotide drug (nL-SCN2A-002)


SCN2a-associated genetic disorder

Therapeutic Mechanism

The study participant has a pathogenic de novo p.R853Q gain-of-function amino acid substitution mutation in the SCN2A gene with both GOF and LOF effects when expressed in cells. nL-SCN2A-002 is designed to specifically bind the pathogenic allele and lower mutant transcript expression.

Unmet Medical Need

There is currently no available targeted therapy for SCN2A related genetic disorder. There is significant genotype-phenotype heterogeneity in SCN2A related genetic disease. The study patient has a rare variant of SCN2A for whom commercial drug development is not feasible.

Project Objective

Phase 1 trial completed

Major Proposed Activities

  • Assessment of safety, tolerability, and efficacy of personalized ASO nL-SCN2A-002 in first in-human n=1 trial per FDA-approved schedule of activities.
  • Identification of additional children with the same variant or ASO-targeted polymorphism who may derive potential benefit from the study drug.
  • Scientific data sharing and publication of trial outcomes to support development and delivery of therapeutics for other nano-rare genetic diseases.
Statement of Benefit to California:
In California, every 1 out of 50 citizens is affected by neurodevelopmental disorders including seizures and autism spectrum disorder. Successful completion of this first in human phase 1 clinical trial with demonstrated safety, tolerability, and efficacy of a personalized ASO drug for SCN2a genetic disease will support future FDA applications and personalized therapies for residents of California diagnosed with other rare genetic diseases without cure.