An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy (ASOTUBB4A)

University of California San Diego

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: TUBB4A-Related Leukodystrophy; Genetic Disease

Treatments: Drug: nL-TUBB4-001

Study type: Interventional

Funder types: Other

Identifiers

NCT07222371

812067

Details and patient eligibility

About

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

Full description

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

Enrollment: 1 patient

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Open label

Experimental group

Treatment:

Drug: nL-TUBB4-001