There are now two efforts underway to develop registries of Canavan disease patients around the world, which help to identify research subjects and facilitate research about the disease.
One is the natural history registry and bio-depository the Canavan Foundation co-funded with the National Tay-Sachs and Allied Diseases Association last year, under the leadership of Dr. Heather Lau at NYU. This effort is a collaboration with Mass General Hospital and clinicians in Germany to create a unified database that reduces redundancy by providing a unique global identifier and standardized language for data collection. The natural history registry will be open to the public in early 2017. Please check back then for details."
The other new registry, initiated by Canavan Research Illinois, is the patient-driven Canavan Patient Insight Network, developed by AltaVoice, a company based in Silicon Valley that aims to “optimize the search for better treatments for multiple diseases.” If you or anyone you know has received a diagnosis of Canavan disease, you can join the AltaVoice here.
Research Update from our friends at the National Tay Sachs and Allied Diseases.
Dr. Guanping Gao with children who have Canavan disease
Canavan disease is a progressive leukodystrophy (which means it tends to get worse through the life of the patient). It's one of a group of over 50 rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath in the brain. The myelin sheath forms a protective coating around each nerve cell thereby ensuring the clear transmission of nerve impulses from one part of the body to another. Canavan disease is caused by the absence of a vital enzyme known as aspartoacylaste (ASPA) which breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. To date, there is no treatment or cure for Canavan disease, but research is making exciting advances.
Gene replacement therapy seems to show promise for Canavan disease. A recently-completed study in mice, conducted by Dr. Guangping Gao, and co-funded by the Canavan Foundation and National Tay Sachs and Allied Diseases, showed slowing of the course of the disease as a result of injecting the aspartoacylase gene into mice bred to have an enzyme deficIency similar to the one that causes Canavan disease in humans. Download Dr. Gao's Summary Report (2 pages) or Full Report (31-page PowerPoint presentation).
Despite ongoing research, a cure or effective treatments of Canavan disease are still in the future. The Canavan Foundation believes strongly that comprehensive carrier screening—to identify carrier couples and help them find ways to build families free of Canavan disease—remains the most practical way to lessen the impact of the disease on carrier families at the current time.
The websites of the National Tay Sachs and Allied Diseases Association (NTSAD) and the Canavan Research Foundation have sections dedicated to following the progress of the research.