Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)

NCT07197294 | Active Not Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: AAAV6360
• 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 participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous pathogenic missense mutation in MAPK8IP3

Conditions

Neurodevelopmental Disorder With or Without Variable Brain Abnormalities

Outcome Measures

Primary Outcomes (6)

• Motor Skills

  Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Measure-88 score.

  Baseline to 24 months

• Motor Skills

  Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Gross Motor Function Classification Scale (GMFCS) score.

  Baseline to 24 months

• Motor Skills

  Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Manual Ability Classification Scale (MACS) level.

  Baseline to 24 months

• Motor Skills

  Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) score.

  Baseline to 24 months

• Motor Skills

  Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by the Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) score.

  Baseline to 24 months

• Motor Skills

  Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by distance, velocity, acceleration, movement shape, and entropy of movement captured on wrist and ankle accelerometers.

  Baseline to 24 months

Secondary Outcomes (10)

• Seizure Onset

  Baseline to 24 months

• Seizure Onset

  Baseline to 24 months

• Respiratory Infections

  Baseline to 24 months

• Respiratory Infections

  Baseline to 24 months

• Sleep Quality

  Baseline to 24 months

Other Outcomes (6)

• Communication

  Baseline to 24 months

• Communication

  Baseline to 24 months

• Communication

  Baseline to 24 months

Study Arms (1)

Open Label

EXPERIMENTAL

Drug: nL-MAPK8-001

Interventions

nL-MAPK8-001 DRUG

Personalized antisense oligonucleotide

Open Label

Eligibility Criteria

• Age: 5 Years - 5 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s)
• Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records
• Genetically confirmed neurodevelopmental disorder due to MAPK8IP3 mutation

You may not qualify if:

• Use of investigational medication within 5 half-lives of the drug at enrolment
• Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.

Sponsors & Collaborators

• n-Lorem Foundation: lead
• Columbia University: collaborator

Study Sites (1)

Columbia University

New York, New York, 10032, United States

Location

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 23, 2025
• First Posted: September 29, 2025
• Study Start: February 24, 2025
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: September 29, 2025

Record last verified: 2025-07

Locations

US (1)