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Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy | Clinical Trials | Clareo Health

ENROLLING_BY_INVITATIONPHASE1/PHASE2

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

NCT06369974•Massachusetts General Hospital

View on ClinicalTrials.gov

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)

Eligibility

Age

4 - No limit years

Sex

ALL

Healthy Volunteers

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.

Locations (1)

Massachusetts General Hospital

Boston, Massachusetts, United States

Key Dates

Start Date

September 18, 2024

Primary Completion Date

June 1, 2026

Completion Date

June 1, 2026

Last Updated

March 2, 2026

Enrollment

ESTIMATED participants

Conditions

Genetic Disease

Interventions

Antisense oligonucleotide treatment (ASO)

DRUG

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RECRUITING

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: March 2, 2026Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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

Inclusion Criteria

Exclusion Criteria

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