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

Phase 2Not Yet RecruitingNCT06369974

Massachusetts General Hospital1 enrolled

Overview

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

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)

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Genetic Disease

Interventions

Antisense oligonucleotide treatment (ASO)DRUG

Drug: nL-TUBB4-001; Personalized antisense oligonucleotide

Eligibility

Sex: ALLMin age: 4 Years

Medical Language ↔ Plain English

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. * Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy/Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) * Documented genetic mutation in TUBB4A Exclusion Criteria: * Participant has any known contraindication to or unwillingness to undergo lumbar puncture * 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.

Outcomes

Primary Outcomes

Neurological assessments

Change from baseline at 24 months post nL-TUBB4-001 administration in scores on the GMFM88, HINE-1, HINE-2, Bayley-4, and Vineland-3 developmental assessment scales, as well as the Tardieu Spasticity Scale and PedsQL Family Impact Module

Time frame: Baseline to 24 months

Secondary Outcomes

Feeding and swallow evaluation

Change from baseline at 24 months post nL-TUBB4-001 administration in assessment of feeding and swallow evaluation.

Time frame: Baseline to 24 months

Safety and tolerability

Time frame: Baseline to 24 months

Central Contacts

Vanessa Santhakumar, MSc

CONTACT

3322694788 vsanthakumar@mgh.harvard.edu

Data from ClinicalTrials.gov

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