This study is in progress, not accepting new patients

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Summary

Location
at San Diego, California
Dates
study started
completion around
Principal Investigator
by Olivia Kim-McManus, M.D.
Headshot of Olivia Kim-McManus
Olivia Kim-McManus

Description

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

Details

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.

Keywords

Genetic Disease, Inborn Genetic Diseases, nL-SCN2A-002, Open label

Eligibility

You can join if…

  • 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

You CAN'T join if...

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

Location

  • Rady Children's Hospital
    San Diego California 92123 United States

Lead Scientist at UCSD

  • Olivia Kim-McManus, M.D.
    Dr. Olivia Kim-McManus is an Associate Clinical Professor at UC San Diego School of Medicine Department of Neurosciences and a pediatric neurologist and epileptologist at Rady Children's Hospital Division of Pediatric Neurology.

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Diego
ID
NCT06314490
Phase
Phase 1/2
Study Type
Interventional
Participants
About 1 people participating
Last Updated