Overview
Severe Canavan disease (also called Canavan disease, infantile form, or Canavan-Van Bogaert-Bertrand disease) is a rare inherited brain disorder that belongs to a group of conditions known as leukodystrophies. These are diseases that damage the white matter of the brain — the tissue that helps nerve cells communicate with each other. Canavan disease is caused by a shortage of an enzyme called aspartoacylase, which leads to a buildup of a substance called N-acetylaspartic acid (NAA) in the brain. This buildup damages the myelin sheath, the protective coating around nerve fibers, causing the brain's white matter to break down over time. The severe form of Canavan disease typically appears in the first few months of life. Babies may seem normal at birth but soon develop problems such as poor head control, an unusually large head (macrocephaly), reduced muscle tone (floppiness), and difficulty feeding. As the disease progresses, children experience severe intellectual disability, seizures, vision loss, and an inability to sit, stand, or walk independently. Swallowing difficulties can lead to choking and aspiration. There is currently no cure for severe Canavan disease. Treatment is supportive and focuses on managing symptoms, improving comfort, and maintaining quality of life. This may include physical therapy, nutritional support through feeding tubes, medications for seizures, and other interventions. Research into gene therapy and other experimental approaches is ongoing and offers hope for future treatments.
Also known as:
Key symptoms:
Unusually large head (macrocephaly)Poor head controlFloppiness or low muscle tone in early infancyStiffness or rigidity of limbs as disease progressesSevere intellectual disabilityInability to sit, crawl, walk, or talkSeizuresVision loss or blindnessDifficulty swallowing and feedingFailure to reach developmental milestonesIrritability and sleep disturbancesLoss of previously acquired skills (developmental regression)Gastroesophageal refluxBreathing difficulties
Clinical phenotype terms (34)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Severe Canavan disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Severe Canavan disease at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Severe Canavan disease.
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 Severe Canavan disease.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected course of my child's condition, and what changes should I watch for?,What seizure medications are recommended, and what are their side effects?,When should we consider placing a feeding tube, and what are the benefits and risks?,Are there any clinical trials or experimental treatments, such as gene therapy, that my child might be eligible for?,What therapies (physical, occupational, speech) are recommended, and how often should they occur?,What emergency situations should I be prepared for, and what is the action plan?,Can you help us connect with palliative care services and family support resources?
Common questions about Severe Canavan disease
What is Severe Canavan disease?
Severe Canavan disease (also called Canavan disease, infantile form, or Canavan-Van Bogaert-Bertrand disease) is a rare inherited brain disorder that belongs to a group of conditions known as leukodystrophies. These are diseases that damage the white matter of the brain — the tissue that helps nerve cells communicate with each other. Canavan disease is caused by a shortage of an enzyme called aspartoacylase, which leads to a buildup of a substance called N-acetylaspartic acid (NAA) in the brain. This buildup damages the myelin sheath, the protective coating around nerve fibers, causing the bra
How is Severe Canavan disease inherited?
Severe Canavan disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe Canavan disease typically begin?
Typical onset of Severe Canavan disease is infantile. Age of onset can vary across affected individuals.