NCT06369974

Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy

An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy

• Status: Enrolling By Invitation
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 1 (estimated)
• Sponsor: Massachusetts General Hospital · Academic / Other
• Sex: All
• Age: 4 Years
• Healthy volunteers: Not accepted

Summary

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.

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 pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Conditions

• Genetic Disease

Interventions

Type	Name	Description
DRUG	Antisense oligonucleotide treatment (ASO)	Drug: nL-TUBB4-001; Personalized antisense oligonucleotide

Timeline

• Start date: 2024-09-18
• Primary completion: 2026-06-01
• Completion: 2026-06-01
• First posted: 2024-04-17
• Last updated: 2026-03-02

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study