The ClinicalTrials.gov registry now lists NCT02362438, a Phase 1 study of intrathecal gene transfer for Giant Axonal Neuropathy (GAN), with an overall status of completed. The record, sponsored by the National Institute of Neurological Disorders and Stroke (NINDS) and last updated June 18, 2026, describes an open-label, non-randomized, first-in-human trial that enrolled 14 participants. According to the registry, the study began on April 24, 2015 and carries a primary completion date of April 10, 2026, closing out a roughly eleven-year single-center effort to test whether a single dose of an adeno-associated virus (AAV) vector can be delivered safely into the central nervous system of people who carry the disease.

The intervention itself is described in the record as a genetic agent. The registry names it scAAV9/JeT-GAN and characterizes it plainly as a "biological gene transfer reagent." The construct pairs a self-complementary AAV serotype 9 capsid with the GAN gene under a JeT promoter, and the protocol calls for it to be administered intrathecally — that is, injected into the cerebrospinal fluid by spinal tap rather than infused into the bloodstream or directly into brain tissue. The registry frames the design as an escalating single-dose paradigm whose stated purpose is to evaluate safety in genetically confirmed patients.

"This is an open-label and non-randomized first-in-human (Phase 1) clinical trial which incorporates an escalating single dose paradigm to assess safety of the gene transfer vector scAAV9/JeT-GAN administered intrathecally to target the brain and spinal cord of individuals with genetically confirmed Giant Axonal Neuropathy (GAN, OMIM #256850)."— ClinicalTrials.gov, NCT02362438, source

The disease the trial targets is described in the registry as a chronic neurodegenerative, autosomal recessive condition. Per the detailed description, GAN is "pathologically characterized by enlarged axons with disordered intermediate filaments and microtubules," and its pathology traces to loss-of-function variants in the GAN gene, which encodes the protein gigaxonin. The record states that gigaxonin "plays a major role in the maintenance of orderly and functional intermediate filament (IF) architecture, which is critical for axonal function." That mechanistic framing is what ties the disease to a gene-replacement strategy: where the body cannot make functional gigaxonin, the trial supplies a working copy of the gene packaged inside a viral capsid that can reach nerve cells.

What the registry reports about the patient population and timeline

The eligibility section of the record sets a minimum age of 3 years and a maximum of 99, and lists both sexes. That broad age window reflects the natural history the registry recounts. According to the detailed description, onset of symptoms in GAN is "usually at three to four years of age" and "generally manifests with a clumsy and unsteady gait (sensory ataxia)." The record describes a progressive course in which, "by the end of the second decade of life, patients typically are wheelchair dependent with limited use of the arms and little to no use of their legs," with tracheostomy or other ventilation and a feeding tube often becoming necessary during the second decade. The registry also notes the identification of "a sub-cohort of patients with a milder and later onset" form of the disease, which helps explain the wide enrollment age range.

The follow-up burden documented in the record is substantial. The registry states that participants undergo "about 27 visits, weekly, monthly, and then yearly over 15 years," and that for one month after gene transfer they must live full-time within 100 miles of the NIH. The listed assessments include physical and nervous-system exams; blood, urine, and stool samples; nerve, lung, heart, and eye testing; MRI scans; nerve biopsies; and spinal taps, with sedation used for some procedures. The route of administration is described directly in patient-facing terms: participants "will get the gene transfer through an injection by spinal tap into their cerebrospinal fluid, which flows around the brain and spinal cord," with the genes "packed in a modified virus that carries the genes to cells in their body."

How the trial defines success on the record

The registry lists a single primary outcome: "To assess the safety of the vector," measured by adverse-event reports. That is consistent with the study's Phase 1, dose-escalation framing — the design documented here is built to characterize tolerability of an escalating single dose, not to establish efficacy. The record reports an actual enrollment of 14 participants. As of this update, the registry indicates the study does not yet have posted results, so the entry reflects a status and design change rather than a reported clinical readout.

For readers tracking the intellectual-property and licensing landscape around AAV gene therapy, the registry entry is useful chiefly as a primary-source marker of where a specific construct and delivery route stand. The record names the components a patent or licensing review would want to locate: a self-complementary AAV9 capsid, the JeT promoter element, the GAN transgene, and intrathecal cerebrospinal-fluid delivery. Each of those elements maps onto the kinds of claims — capsid sequences, regulatory cassettes, and methods of central-nervous-system administration — that recur across the gene-therapy estate. The ClinicalTrials.gov record does not assert any patent position; it documents that an NINDS-sponsored program carried this particular combination through a first-in-human Phase 1 study to completion.

The entry also situates GAN within the broader pattern of intrathecally delivered AAV programs aimed at the central nervous system. The record's own framing — an escalating single dose, delivered into the cerebrospinal fluid "to target the brain and spinal cord" — describes a delivery strategy that contrasts with the systemic intravenous dosing used in some other AAV9 neurology programs and with the direct intraparenchymal infusion used in others. What the registry establishes here is narrow and concrete: as of June 18, 2026, the NINDS lists this 14-participant, single-center Phase 1 safety study of scAAV9/JeT-GAN for Giant Axonal Neuropathy as completed. Readers seeking the trial's safety findings will need to await results posted to the registry or to the peer-reviewed literature, neither of which is contained in the current record.