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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-09-19

Study Completion Date

2027-09-30

Brief Summary

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

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Detailed Description

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The study is an investigational interventional drug created for the study subject's specific pathogenic genetic mutation.

Conditions

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Genetic Disease TUBB4A-Related Leukodystrophy

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Open label

Group Type EXPERIMENTAL

nL-TUBB4-001

Intervention Type DRUG

Personalized antisense oligonucleotide

Interventions

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nL-TUBB4-001

Personalized antisense oligonucleotide

Intervention Type DRUG

Eligibility Criteria

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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
* 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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No