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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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What is Canavan disease?

Canavan is a progressive neurological genetic disorder caused by the absence of a vital enzyme known as aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.  It is one of over 50 genetically inherited disorders known as Leukodystrophies Diseases. A cure for Canavan does not yet exist but there are many strategies for managing life with Canavan disease.

The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan.

In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. This discovery led to carrier screening and prenatal testing for the disease.

Who is at risk of having Canavan disease?

Anyone can be a carrier of Canavan disease and not have any symptoms. When both parents are carriers, each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/55. Read more About Inheritance.

Talk to your doctor about Genetic Counseling to discuss your options before starting your family.

What are the symptoms of Canavan disease?

A baby with Canavan may appear normal at birth and typically develops normally for several months. Sometimes symptoms are noticeable at birth. As development slows, parents may notice a reduction in vision and tracking.

Read More

What causes Canavan disease?

Canavan disease is caused by the absence of a vital enzyme called aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.

Read More

How is Canavan disease diagnosed?

Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations. 

Read More

Support: Coping with Canavan disease

There is no treatment or cure for Canavan disease but there are ways to manage symptoms. 

NTSAD is the largest organization dedicated to supporting families with members having Canavan, GM1, Sandhoff, or Tay-Sachs - allied diseases that have common symptoms and ways to manage them. We have compiled many resources for family members, provide weekly and monthly updates on events and research, and organize an annual family conference specifically for family members.

Explore the Support web pages: Infantile & Juvenile Support

 

What research is being done to find a cure for Canavan disease?

To date, there is no treatment or cure for Canavan disease but research is making exciting advances towards a treatment and a cure.  Research includes gene therapy, stem cell therapy and acetate supplement.

Read More

 

Where can I research more about Canavan disease?

U.S. National LIbrary of Medicine
Genetics Home Reference - Canavan Summary
National Center for Biotechnology Information - Canavan
Genetic Testing Registry - Canavan
Medical Publications on Canavan

U.S. National Institute of Health
Canavan Clinical Trials
Genetic & Rare Disease Info Center - Canavan

Orphanet, Online Rare Disease & Orphan Drugs
Canavan Summary and Online Resources

OMIM database of of human genes and genetic phenotypes
Canavan

Canavan Research Foundation
www.canavan.org
This email address is being protected from spambots. You need JavaScript enabled to view it.

Canavan Foundation
www.canavanfoundation.org

 

First signs

A baby with Canavan may appear normal at birth and typically develops normally for several months. Sometimes symptoms are noticeable at birth. As development slows, parents may notice a reduction in vision and tracking.

Gradual Loss of skills

Children with Canavan gradually regress, losing skills one by one, and eventually are unable to crawl, turn over, sit or reach out.  Other symptoms include loss of coordination, progressive inability to swallow and difficulty breathing.

By Age 3 and beyond

By age 3, children progressively lose muscle tone and function. Some children experience recurrent seizures. Despite their inability to communicate by traditional means many parents believe their child understands their surroundings and can speak volumes with their eyes.

Cause

Canavan disease is caused by the absence of a vital enzyme called aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.

Gene Location

The gene that causes Tay-Sachs is located on chromosome 17, specifically 17pter-p13.

Inheritance

Canavan is an autosomal recessive genetic disorder. Both parents must be a carrier for children to be at risk. If both parents are carriers, there is a 25% chance with each pregnancy the child will be affected.

Read more About Inheritance

How is Canavan Diagnosed?

Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations.

Road to Diagnosis

Often an MRI or CT showing signs of decreased myelination leads to the Canavan diagnosis.

Who is at risk?

Anyone can be a carrier of Canavan.  When both parents are carriers each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40.

Talk to your doctor about genetic counseling to discuss your options before starting your family.

To date, there is no treatment or cure for Canavan disease but research is making exciting advances towards a treatment and a cure.  

Gene Therapy

The first clinical trial partially funded and approved by the Food and Drug Administration (FDA) and the National Institute of Health (NIH), in which a new and more potent viral vector is being used to transport the genes into the brains of Canavan children, is ongoing at the Robert Wood Johnson Medical Center. Gene Therapy

Stem Cells

Leading stem cell researchers are exploring the potential therapeutic effects of stem cells in Canavan disease. Stem cell therapy is still an emerging field; potential therapies or clinical trials using stem cell therapy are not immediate. Stem Cell Therapy

Acetate Supplement

Acetate supplement therapy has shown improvements in Canavan rats. Canavan disease causes a deficiency of acetate, an essential building block of myelin. Acetate supplement therapy attempts to replenish the deficiency and improve myelination. Acetate Supplement Therapy for Canavan

 

Read more about NTSAD-funded Canavan Research projects:

Links to Library Documents

 Canavan Review Article - Making the White Matter Matters: Progress in Understanding Canavan’s Disease and Therapeutic Interventions Through Eight Decades, Seemin S. Ahmed • Guangping Gao

 Canavan Gene Therapy - Final Progress Report, Dr. Gao

 Dr. Gao et al, Canavan Gene Therapy published paper

 Dr. Aryan Namboodiri, GTA Treatment in Tremor Rat Model of Canavan Disease: Effectiveness and Lack of Toxicity

 Maria Traka, Canavan research report (Canavan biochemical pathway)

  

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