Status:
ACTIVE_NOT_RECRUITING
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
Lead Sponsor:
University of California, San Diego
Conditions:
Genetic Disease
TUBB4A-Related Leukodystrophy
Eligibility:
All Genders
Phase:
PHASE1
PHASE2
Brief Summary
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
Detailed Description
The study is an investigational interventional drug created for the study subject's specific pathogenic genetic mutation.
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
- 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 enrollment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Key Trial Info
Start Date :
September 19 2025
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
September 1 2027
Estimated Enrollment :
1 Patients enrolled
Trial Details
Trial ID
NCT07222371
Start Date
September 19 2025
End Date
September 1 2027
Last Update
October 29 2025
Active Locations (1)
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1
Rady Children's Hospital San Diego
San Diego, California, United States, 92123