NCT06314490

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

• Status: Active Not Recruiting
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 1 (actual)
• Sponsor: University of California, San Diego · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with SCN2A associated developmental epileptic encephalopathy

Detailed description

This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function SCN2A mutation associated with severe developmental epileptic encephalopathy.

Conditions

• Genetic Disease

Interventions

Type	Name	Description
DRUG	nL-SCN2A-002	Personalized antisense oligonucleotide

Timeline

• Start date: 2024-02-16
• Primary completion: 2026-02-16
• Completion: 2026-02-16
• First posted: 2024-03-18
• Last updated: 2025-04-01

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study