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

NCT ID: NCT07197294

Last Updated: 2025-09-29

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: PHASE1/PHASE2
• Total Enrollment: 1 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-02-24
• Study Completion Date: 2027-02-28

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

Detailed Description

This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with NEDBA due to a heterozygous pathogenic missense mutation in MAPK8IP3

Conditions

Neurodevelopmental Disorder With or Without Variable Brain Abnormalities

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Open Label

Group Type: EXPERIMENTAL

nL-MAPK8-001

Intervention Type: DRUG

Personalized antisense oligonucleotide

Interventions

nL-MAPK8-001

Personalized antisense oligonucleotide

Intervention Type: DRUG

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

• 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.

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 5 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Columbia University

OTHER

Sponsor Role: collaborator

n-Lorem Foundation

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Columbia University

New York, New York, United States

Countries

United States

Other Identifiers

AAAV6360

Identifier Type: -

Identifier Source: org_study_id