Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-02-16

Study Completion Date

2026-02-16

Brief Summary

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

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Detailed Description

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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

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Genetic Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Open label

Group Type EXPERIMENTAL

nL-SCN2A-002

Intervention Type DRUG

Personalized antisense oligonucleotide

Interventions

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nL-SCN2A-002

Personalized antisense oligonucleotide

Intervention Type DRUG

Eligibility Criteria

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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