Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Genetic Disease Clinical Trial

Official title:

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT06314490
• Other study ID #: ASOSCN2A
• Status: Active, not recruiting
• Phase: Phase 1/Phase 2
• Start date: February 16, 2024
• Est. completion date: February 16, 2026

Study information

• Verified date: March 2024
• Source: University of California, San Diego
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 1
• Est. completion date: February 16, 2026
• Est. primary completion date: February 16, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn

Intervention

Drug:
• nL-SCN2A-002
Personalized antisense oligonucleotide

Locations

Country	Name	City	State
United States	Rady Children's Hospital	San Diego	California

Sponsors (3)

Lead Sponsor	Collaborator
University of California, San Diego	California Institute for Regenerative Medicine (CIRM), n-Lorem Foundation

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Seizure frequency	As measured by caregiver provided seizure diary	Baseline to 24 months
Primary	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
Primary	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
Primary	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
Primary	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	Neurodevelopmental Function as measured by Aberrant Behavior Checklist	The Aberrant Behavior Checklist (ABC) is an empirically developed scale tailored to measure psychiatric symptoms and behavioral disturbances in individuals with Intellectual and Developmental Disabilities (IDD). It contains five domains: Irritability, Agitation, & Crying; Lethargy/Social Withdrawal; Stereotypic Behavior; Hyperactivity/Noncompliance; and Inappropriate Speech. Each question is scored on a 4-point scale (0 = not a problem to 3 = severe problem) to assess severity. Total scores per subscale reflect the extent of behavioral challenges, with higher scores indicating greater severity.	Baseline to 24 months
Secondary	Neurodevelopmental Function as measured by Observer-Reported Communication Ability Measure	The Observer-Reported Communication Ability (ORCA) Measure is a questionnaire assessing communication abilities in individuals with neurodevelopmental disorders, significantly impacting verbal speech. It includes 84 questions, with 70 behavioral items across 22 concepts/functions and 14 descriptive items about individual communication methods, covering expressive, receptive, and pragmatic communication areas. The ORCA is validated for Angelman and Rett syndromes and is being evaluated for other disorders. The ORCA T-score ranges from 25.8 to 83.8, with higher ORCA T-scores indicate greater communication ability.	Baseline to 24 months
Secondary	Neurodevelopmental Function as measured by the 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 through multiple domains, including communication and socialization. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.	Baseline to 24 months
Secondary	Neurodevelopmental Function as measured by the 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 across subdomains of cognition and language (receptive and expressive communication). The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better neurodevelopment.	Baseline to 24 months