Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

University of California San Diego

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Genetic Disease

Treatments: Drug: nL-SCN2A-002

Study type: Interventional

Funder types: Other

Identifiers

NCT06314490

ASOSCN2A

Details and patient eligibility

About

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

Full 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.

Enrollment: 1 patient

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Informed consent provided by the participant's parent(s)/guardian(s)
• Ability to travel to the study site, adhere to study-related follow-up examinations and/or procedures, and provide access to participant's medical records.
• Genetically confirmed mutation

Exclusion criteria

• Use of an investigational medication within less than 5 half-lives of the drug at enrollment

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Open label

Experimental group

Treatment:

Drug: nL-SCN2A-002