Active — Not RecruitingPhase 1/2

An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy

United States1 participantsStarted 2025-09-19

Plain-language summary

This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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 * 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 enrollment * Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD)

Timeframe: baseline to 12 and 24 months

Dystonia and gross motor function as measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS)

Timeframe: baseline to 12 and 24 months

Dystonia and gross motor function as measured by Gross Motor Function Measure-88 (GMFM-88)

Timeframe: baseline to 12 and 24 months

Dystonia and gross motor function as measured by Vineland Adaptive Behavior Scales

Timeframe: baseline to 12 and 24 months

Trial details

NCT IDNCT07222371

SponsorUniversity of California, San Diego

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2027-09

View on ClinicalTrials.gov More Genetic Disease trials

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD)

Timeframe: baseline to 12 and 24 months

Dystonia and gross motor function as measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS)

Timeframe: baseline to 12 and 24 months

Dystonia and gross motor function as measured by Gross Motor Function Measure-88 (GMFM-88)

Timeframe: baseline to 12 and 24 months

Dystonia and gross motor function as measured by Vineland Adaptive Behavior Scales

Timeframe: baseline to 12 and 24 months