Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy (NCT06369974) | Clinical Trial Compass
By InvitationPhase 1/2
Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
United States1 participantsStarted 2024-09-18
Plain-language summary
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
Who can participate
Age range4 Years
SexALL
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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.