NCT06369974
Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
Enrolling by Invitation
PHASE1Ages 4+InterventionalTreatmentMassachusetts General HospitalInvestigator-initiated
~1 participants
Updated 2026-03-02 on ClinicalTrials.gov
What's tested:Antisense oligonucleotide treatment (ASO)
At a glance
Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Neurological assessments
Measured over Baseline to 24 months
Conditions
Where it's being run
1 sites across 1 statesMassachusetts1
Study leadership
- Florian Eichler, MD · PRINCIPAL_INVESTIGATOR · Massachusetts General Hospital
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
Do you actually qualify for this trial?
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Eligibility criteria
Inclusion
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
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.
What this trial measures
- Neurological assessmentsBaseline to 24 months
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