Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy

Mass General Brigham

Status and phase

Not yet enrolling

Phase 2

Phase 1

Conditions

Genetic Disease

Treatments

Drug: Antisense oligonucleotide treatment (ASO)

Study type

Interventional

Funder types

Other

Identifiers

NCT06369974

2024P000386

Details and patient eligibility

About

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.

Full description

This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Enrollment

1 estimated patient

Sex

All

Ages

4 to 6 years old

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/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.