This study is in progress, not accepting new patients

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

a study on TUBB4A-Related Leukodystrophy

Summary

Location
at San Diego, California
Dates
study started
study ends around
Principal Investigator
by Olivia Kim-McManus

Description

Summary

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

Details

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

Keywords

Genetic Disease, TUBB4A-Related Leukodystrophy, Inborn Genetic Diseases, nL-TUBB4-001, Open label

Eligibility

You can join if…

  • 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

You CAN'T join if...

  • 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.

Location

  • Rady Children's Hospital San Diego
    San Diego California 92123 United States

Lead Scientist at UCSD

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Diego
ID
NCT07222371
Phase
Phase 1/2 TUBB4A-Related Leukodystrophy Research Study
Study Type
Interventional
Participants
About 1 people participating
Last Updated