Canavan Disease

Common Name(s)

Canavan Disease, Spongy degeneration of central nervous system

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.  Canavan disease is caused by mutations in the ASPA gene and is inherited in an autosomal recessive pattern. While it occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage, and among Saudi Arabians.
 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Canavan Disease" for support, advocacy or research.

Logo
Canavan Foundation, Inc.

The Foundation's mission is twofold: to help prevent Canavan disease and other Jewish genetic diseases through education about the availability of carrier screening; and to support research efforts to find effective therapies and a cure.

Last Updated: 15 Nov 2012

View Details
Canavan Research Foundation

The Canavan Research Foundation is dedicated to eradicating neurodegenerative brain disease. Our research culminated in the world's first gene therapy for a brain disease in 1996, which spurred myelin growth in the brain of its young recipients. In the past few months, there has been a major breakthrough- through stem cell and metabolic treatment, the research team has found a cure to Canavan Disease, which will lead to a cure for Alzheimer's and other degenerative diseases. But funding is direly needed- your help has never been so important.

Last Updated: 15 Feb 2013

View Details
Logo
Canavan Research Illinois

Canavan Research Illinois (also known as Canavan Disease Research) is a nonprofit corporation and 501(c)(3) public charity based in Illinois, established in April 2000 to meet a critical need to support medical research to treat, cure, and improve the quality of lives of all children battling Canavan disease, a rare fatal genetic neurological disorder. We further increase public awareness and network Canavan families.

Last Updated: 10 Jan 2013

View Details
Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

View Details
National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Canavan Disease" for support, advocacy or research.

Logo
Canavan Foundation, Inc.

The Foundation's mission is twofold: to help prevent Canavan disease and other Jewish genetic diseases through education about the availability of carrier screening; and to support research efforts to find effective therapies and a cure.

http://www.canavanfoundation.org

Last Updated: 15 Nov 2012

View Details
Canavan Research Foundation

The Canavan Research Foundation is dedicated to eradicating neurodegenerative brain disease. Our research culminated in the world's first gene therapy for a brain disease in 1996, which spurred myelin growth in the brain of its young recipients. In the past few months, there has been a major breakthrough- through stem cell and metabolic treatment, the research team has found a cure to Canavan Disease, which will lead to a cure for Alzheimer's and other degenerative diseases. But funding is direly needed- your help has never been so important.

http://www.canavan.org

Last Updated: 15 Feb 2013

View Details
Logo
Canavan Research Illinois

Canavan Research Illinois (also known as Canavan Disease Research) is a nonprofit corporation and 501(c)(3) public charity based in Illinois, established in April 2000 to meet a critical need to support medical research to treat, cure, and improve the quality of lives of all children battling Canavan disease, a rare fatal genetic neurological disorder. We further increase public awareness and network Canavan families.

http://www.canavanresearch.org

Last Updated: 10 Jan 2013

View Details
Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Canavan Disease" returned 16 free, full-text research articles on human participants. First 3 results:

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
 

Author(s): Marisa I Mendes, Desirée Ec Smith, Ana Pop, Pascal Lennertz, Matilde R Fernandez Ojeda, Warsha A Kanhai, Silvy Jm van Dooren, Yair Anikster, Ivo Barić, Caroline Boelen, Jaime Campistol, Lonneke de Boer, Ariana Kariminejad, Hulya Kayserili, Agathe Roubertie, Krijn T Verbruggen, Christine Vianey-Saban, Monique Williams, Gajja S Salomons

Journal: Hum. Mutat.. 2017 May;38(5):524-531.

 

We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The ...

Last Updated: 19 Jan 2017

Go To URL
Long-term follow-up after gene therapy for canavan disease.
 

Author(s): Paola Leone, David Shera, Scott W J McPhee, Jeremy S Francis, Edwin H Kolodny, Larissa T Bilaniuk, Dah-Jyuu Wang, Mitra Assadi, Olga Goldfarb, H Warren Goldman, Andrew Freese, Deborah Young, Matthew J During, R Jude Samulski, Christopher G Janson

Journal: Sci Transl Med. 2012 Dec;4(165):165ra163.

 

Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetyl-aspartate (NAA) in the brain. Accumulation of NAA results in spongiform degeneration of white ...

Last Updated: 20 Dec 2012

Go To URL
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.
 

Author(s): Stephen Zano, Radhika Malik, Sylvia Szucs, Reuben Matalon, Ronald E Viola

Journal: Mol. Genet. Metab.. 2011 Feb;102(2):176-80.

 

Canavan disease is a fatal neurological disease without any effective treatments to slow the relentless progress of this disorder. Enzyme replacement therapy has been used effectively to treat a number of metabolic disorders, but the presence of the blood-brain-barrier presents an ...

Last Updated: 18 Jan 2011

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Canavan Disease" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Natural History Study of Canavan Disease
 

Status: Recruiting

Condition Summary: Canavan Disease

 

Last Updated: 12 May 2017

Go to URL