Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

NCT06314490 | Active Not Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: ASOSCN2A
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Genetic Disease

Outcome Measures

Primary Outcomes (5)

• Seizure frequency

  As measured by caregiver provided seizure diary

  Baseline to 24 months

• Motor function as measured by Dyskinetic Cerebral Palsy Functional Impact Scale

  The Dyskinetic Cerebral Palsy Functional Impact Scale (D-FIS) is an 18 item caregiver questionnaire that evaluates the impact of dyskinesia on daily functions. It is a validated assessment tool for children aged 2 years and 6 months to 18 years. It uses a 5-point ordinal scale, from 0 (no impact) to 4 (extreme impact), for each item and derives a total score from summing all 18 items. A higher score indicates more severe impact of dyskinesia and worse motor functioning.

  Baseline to 24 months

• Motor function as measured by the motor skills domain of Vineland Adaptive Behavior Scales

  The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), is a standardized, validated, and reliable assessment tool designed to measure the adaptive behavior of individuals from birth through adulthood. The Vineland-3 Motor Skills domain evaluates gross and fine motor abilities in individuals from birth to age 9, offering insights into coordination, balance, mobility, and dexterity. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.

  Baseline to 24 months

• Motor function as measured by the motor skills domain of Bayley Scales of Infant and Toddler Development

  The Bayley Scales of Infant and Toddler Development is a standardized, validated, and reliable assessment tool for evaluating developmental functioning in infants and toddlers. Its Motor Skills domain evaluates gross and fine motor abilities, including coordination, balance, and movement. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better motor development.

  Baseline to 24 months

• Gastrointestinal assessment as measured by the Bristol Stool Chart

  The Bristol Stool Chart categorizes human feces into seven types, from Type 1 (severe constipation) to Type 7 (diarrhea), with Types 3 and 4 considered normal.

  Baseline to 24 months

Secondary Outcomes (4)

• Neurodevelopmental Function as measured by Aberrant Behavior Checklist

  Baseline to 24 months

• Neurodevelopmental Function as measured by Observer-Reported Communication Ability Measure

  Baseline to 24 months

• Neurodevelopmental Function as measured by the Vineland Adaptive Behavior Scales

  Baseline to 24 months

• Neurodevelopmental Function as measured by the Bayley Scales of Infant and Toddler Development

  Baseline to 24 months

Study Arms (1)

Open label

EXPERIMENTAL

Drug: nL-SCN2A-002

Interventions

nL-SCN2A-002 DRUG

Personalized antisense oligonucleotide

Open label

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify 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 may not qualify if:

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

Sponsors & Collaborators

• University of California, San Diego: lead
• California Institute for Regenerative Medicine (CIRM): collaborator
• n-Lorem Foundation: collaborator

Study Sites (1)

Rady Children's Hospital

San Diego, California, 92123, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Olivia Kim-McManus, M.D.

  UCSD Rady Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Neurosciences

Study Record Dates

• First Submitted: March 1, 2024
• First Posted: March 18, 2024
• Study Start: February 16, 2024
• Primary Completion: February 16, 2026
• Study Completion: February 16, 2026
• Last Updated: April 1, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)