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Research

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.

Aspa Therapeutics Moves Toward A Clinical Trial

On July 31, 2018, Aspa Therapeutics brought together patient group leaders and medical thought leaders to begin a conversation about the needs of the Canavan Disease community. Aspa, a subsidiary of BridgeBio, was formed recently to advance the gene therapy for Canavan Disease developed by Dr. Guangping Gao towards clinical trials. In attendance were Orren Alperstein (Canavan Foundation), Sue Khan (NTSAD), Ilyce Randell (Canavan Research Illinois), Dr. Anette Bley (University Medical Center Hamburg), Dr. Florian Eichler (Massachusetts General Hospital / Harvard Medical School), and Dr. Heather Lau (NYU Langone Medical Center / NYU Medical School). See below for more about Dr. Gao's research.

Dr. Gao with children who have Canavan disease
Dr. Guanping Gao with children who have Canavan disease

Dr. Guanping Gao's Gene Replacement Research

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).

Identifying Canavan Patients Worldwide

There are now two efforts underway to identify Canavan disease patients around the world, which will help to recruit research subjects and facilitate research about the disease.

One is a natural history study and bio-depository that the Canavan Foundation co-funded with the National Tay-Sachs and Allied Diseases Association (NTSAD) in 2017, 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 is now open. More information will be available shortly. 

The second effort, initiated by Canavan Research Illinois, is the Canavan Patient Insight Network (PIN).  If you or anyone you know has received a diagnosis of Canavan disease, you can register there.