CompletedPhase 1

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

United States14 participantsStarted 2015-04-24

Plain-language summary

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.

Who can participate

Age range

3 Years – 99 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: To participate in this study, subjects must meet the following criteria: * Age 3 years or older. * Genetic diagnosis of GAN: Identified pathogenic variant(s) on both copies of the GAN gene. If the variants found are not previously reported, then predictive software tools will be utilized to determine the degree of certainty that the variant is expected to be pathogenic (disease causing). This will also be evaluated in the context of the clinical and pathological phenotype. * Men capable of fathering a child must agree to use barrier contraception (combination of a condom and spermicide) or limit activity to post-menopausal, surgically sterilized, or contraception-practicing partners, for 6 months after administration of investigational product. Women and girls of childbearing potential (and parents/ guardians for minors \< 18) must agree to have urine human chorionic gonadotropin testing performed to rule out the possibility of pregnancy at each visit. Those women who are sexually active must also agree to use barrier contraception as well or limit activity to surgically sterilized or contraception-practicing partners for 3-6 months after the administration of the investigational product. This limitation is set because of the unknown risk associated with the administration of this vector genome to offspring. There is no known risk of sexual transmission of the vector. * Willing and able to give informed consent if \>17 years of age and assent if \>7 ye…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

To assess the safety of the vector

Timeframe: 12 months

Trial details

NCT IDNCT02362438

SponsorNational Institute of Neurological Disorders and Stroke (NINDS)

Sponsor typeNIH

Study typeINTERVENTIONAL

Primary completion2026-04-10

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