Clinical Trial: Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional



Official Title: A Phase I Study of Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy

Brief Summary:

Background:

- The Gigaxonin gene lets the body make a protein chemical called Gigaxonin. Nerves need Gigaxonin to work properly. Giant Axonal Neuropathy (GAN) causes a shortage of functional Gigaxonin. Nerves stop working normally in people with GAN. This causes problems with walking and sometimes with eating, breathing, and many other activities. GAN has no cure. Over time, GAN can shorten a person s life. Researchers want to see if a gene transfer treatment may help people with GAN.

Objectives:

- To see if a gene transfer is safe and shows potential to help people with GAN.

Eligibility:

- People age 5 and older with GAN.

Design:

  • For 2 months participants must live full-time within 100 miles of the NIH.
  • Participants will be screened by phone and in person. They will take many tests. Some are listed below. Their medical records will be reviewed. Their caregivers may be contacted.
  • Participants will have a total of about 30 visits, weekly, monthly, and then yearly over 15 years. They will include many of the tests below.
  • Physical and nervous system exams.
  • Blood, urine, and stool samples.
  • Nerve, lung, heart, and eye tests.
  • Questionnaires.
  • MRI scans, nerve biopsies, and spinal taps. Participants will be sedated for some tests.
  • Speech, memory, muscle, and mobility tests.