Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

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

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.

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