NCT02362438

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

Active, enrolled Phase 1 Last updated 17 April 2026

What this trial tests

Phase 1 trial testing scAAv9/JeT-GAN in Giant Axonal Neuropathy in 14 participants. Participants enrolled and being followed up; not accepting new ones.

Timeline

24 April 2015

Primary endpoint
30 June 2030

1 April 2035

Quick facts

Lead sponsor	National Institute of Neurological Disorders and Stroke (NINDS)
Phase	Phase 1
Status	Active, enrolled
Study type	INTERVENTIONAL
Allocation	non randomized
Design	sequential
Masking	none
Primary purpose	treatment
Enrollment	14
Start date	24 April 2015
Primary completion	30 June 2030
Estimated completion	1 April 2035
Sites	1 location across United States

Drugs / interventions tested

• scAAv9/JeT-GAN

Conditions studied

• Giant Axonal Neuropathy — all drugs for Giant Axonal Neuropathy →
• Gene Transfer — all drugs for Gene Transfer →

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Who can join

Adults 3 to 99, any sex, with Giant Axonal Neuropathy or Gene Transfer. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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

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 3 and older with GAN.

Design:

* For 1 month following gene transfer 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 27 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.
* Skin biopsy (small sample removed).
* Participants will take many medicines. Some require intravenous lines.
* Participants will get the gene transfer through an injection by spinal tap into their cerebrospinal fluid, which flows around the brain and spinal cord. The genes are packed in a modified virus that carries the genes to cells in their body. Participants safety is not guaranteed.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Viral vector platforms within the gene therapy landscape.
   Bulcha JT, Wang Y, Ma H, Tai PWL, et al · · 2021 · cited 899× · PMID 33558455 · DOI 10.1038/s41392-021-00487-6
2. Current Clinical Applications of In Vivo Gene Therapy with AAVs.
   Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, et al · · 2021 · cited 544× · PMID 33309881 · DOI 10.1016/j.ymthe.2020.12.007
3. AAV Vector Immunogenicity in Humans: A Long Journey to Successful Gene Transfer.
   Costa Verdera H, Kuranda K, Mingozzi F. · · 2020 · cited 493× · PMID 31972133 · DOI 10.1016/j.ymthe.2019.12.010
4. Human Immune Responses to Adeno-Associated Virus (AAV) Vectors.
   Ronzitti G, Gross DA, Mingozzi F. · · 2020 · cited 269× · PMID 32362898 · DOI 10.3389/fimmu.2020.00670
5. Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality.
   Hudry E, Vandenberghe LH. · · 2019 · cited 263× · PMID 30844402 · DOI 10.1016/j.neuron.2019.02.017
6. Recombinant Adeno-Associated Virus Gene Therapy in Light of Luxturna (and Zolgensma and Glybera): Where Are We, and How Did We Get Here?
   Keeler AM, Flotte TR. · · 2019 · cited 247× · PMID 31283441 · DOI 10.1146/annurev-virology-092818-015530
7. Viral vector-based gene therapies in the clinic.
   Zhao Z, Anselmo AC, Mitragotri S. · · 2022 · cited 171× · PMID 35079633 · DOI 10.1002/btm2.10258
8. Viral vectors for therapy of neurologic diseases.
   Choudhury SR, Hudry E, Maguire CA, Sena-Esteves M, et al · · 2017 · cited 143× · PMID 26905292 · DOI 10.1016/j.neuropharm.2016.02.013