Overview
Giant axonal neuropathy (GAN), also known as giant axonal neuropathy type 1, is a rare, severe hereditary disorder of the nervous system that typically begins in early childhood. It is caused by mutations in the GAN gene, which encodes gigaxonin, a protein involved in the organization and degradation of intermediate filaments within cells. Loss of functional gigaxonin leads to abnormal accumulation and disorganization of intermediate filaments, resulting in characteristic giant axons visible on nerve biopsy — the hallmark feature from which the disease derives its name. GAN primarily affects the peripheral and central nervous systems. Early symptoms usually appear by age 3–5 years and include progressive motor and sensory neuropathy leading to muscle weakness and wasting, predominantly in the distal limbs. Gait disturbances, areflexia, and sensory loss are common. As the disease progresses, central nervous system involvement becomes apparent, with cerebellar ataxia, dysarthria, nystagmus, intellectual disability, and seizures. Many affected individuals also have characteristically tightly curled or kinky hair (distinct from their family members), which can be an important diagnostic clue. Optic nerve involvement may lead to visual impairment. The disease is relentlessly progressive, and most patients become wheelchair-dependent during the second decade of life, with life expectancy often reduced to the second or third decade. There is currently no approved cure for giant axonal neuropathy. Management is supportive and multidisciplinary, including physical therapy, orthopedic interventions, and management of respiratory and neurological complications. Gene therapy clinical trials using intrathecal delivery of an adeno-associated virus (AAV) vector carrying a functional copy of the GAN gene have been conducted and represent a promising investigational approach. Genetic counseling is recommended for affected families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
4 eventsCuiling Feng — NA
October University for Modern Sciences and Arts — NA
Dr. F. Köhler Chemie GmbH — PHASE3
National Institute of Neurological Disorders and Stroke (NINDS) — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Giant axonal neuropathy.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Giant axonal neuropathy.
Community
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Start the conversation →Latest news about Giant axonal neuropathy
Disease timeline:
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A new clinical trial is recruiting patients for Giant axonal neuropathy
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A new clinical trial is recruiting patients for Giant axonal neuropathy
Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Giant axonal neuropathy
What is Giant axonal neuropathy?
Giant axonal neuropathy (GAN), also known as giant axonal neuropathy type 1, is a rare, severe hereditary disorder of the nervous system that typically begins in early childhood. It is caused by mutations in the GAN gene, which encodes gigaxonin, a protein involved in the organization and degradation of intermediate filaments within cells. Loss of functional gigaxonin leads to abnormal accumulation and disorganization of intermediate filaments, resulting in characteristic giant axons visible on nerve biopsy — the hallmark feature from which the disease derives its name. GAN primarily affects
How is Giant axonal neuropathy inherited?
Giant axonal neuropathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Giant axonal neuropathy typically begin?
Typical onset of Giant axonal neuropathy is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Giant axonal neuropathy?
Yes — 1 recruiting clinical trial is currently listed for Giant axonal neuropathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Giant axonal neuropathy?
1 specialists and care centers treating Giant axonal neuropathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.