A brief history of Canavan disease organized by the people and events which shaped its discovery, growth in awareness, and treatment.
Myrtelle Canavan: Canavan disease was first described by Myrtelle Canavan in 1931. Dr. Canavan was an American physician and medical researcher, in addition to being one of the first female pathologists. According to the National Library of Medicine, “her most famous accomplishment came in 1931 when she published a paper she had co-written with a colleague that described the condition now known as “Canavan’s Disease.” The paper discussed the case of a young child who had died at only sixteen months of age, and whose brain had a soft, spongy section that had turned white. Canavan was the first to diagnose the disease pattern for this degenerative disorder of the central nervous system.”
The Greenberg family: in 1987 a family with two children with Canavan disease donate tissues samples to a researcher named Reuben Matalon at the University of Chicago.
Reuben Matalon: Dr. Matalon successfully isolates the gene in 1993, and develops a test for antenatal counseling. Initially he offers it to the Canavan foundation for free. They offer free testing for the disease using Matalon’s test for several years after the test is developed. This changes in 1997 when Dr. Matalon moves to Miami Children’s Hospital, and through the hospital patents the gene and starts claiming royalties, forcing the foundation to stop offering free testing.
Greenberg v. Miami Children’s Hospital Research Institute: Long story short, the Canavan Foundation and the Greenburg family sue Dr. Matalon and MCH. They lose the case and it sets a court precedent that individuals who donate tissue samples don’t own those samples, however the court does make Matalon and MCH pay an undisclosed settlement. The big takeaway from the case is that property rights are not retained in body tissue and genetic matter if they were donated voluntarily to research.
Research Continues: With an isolated gene and a functional test, research began to progress in the late ’90s and early ’00s, but there are still no approved treatments for Canavan disease, it remains relatively unknown even among doctors and researchers, and it is still reliably mis or under-diagnosed.