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

Enrolling by invitation · Phase 1/Phase 2

Conditions studied: Genetic Disease

In brief

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

Key facts

Study ID

NCT06369974

Run by

Massachusetts General Hospital

People needed

1

Starts

2024-09-18

Expected to finish

2026-06-01

Last updated by the study team

2026-03-02

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: not accepted.

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.
• 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

You may not qualify if…

• 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.

Where it is running

• Massachusetts General Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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