Rare diseases are defined as such because the number of people affected by them is considered very low. Depending on which country you live in, that number will change. There are so many rare diseases in the world that if you add up the number of people living with one, it’s no longer a small number. In the United States, 25-30 million people are estimated to live with a rare disease.
I had never heard of Canavan Disease before a friend shared this article about a young man from Toronto who passed away recently. (Canavan Disease affects 2,000 people worldwide.) I saved the article to my Facebook feed as a way of being able to find it later, because I was curious to see whether a gene therapy might be in development.
That simple act of sharing the article elicited a surprising amount of attention from my friends who knew Jacob, his family and his foundation, and were saddened by the news of his passing. As with many rare conditions, families often spearhead fundraising to support research. In Jacob Schwartz’s case, his mother was a vocal advocate and established Jacob’s Ladder, the Canadian Foundation for Control of Neurodegenerative Disease, which raised over $3 million in Jacob’s lifetime. The foundation raises money for genetic testing, therapy, research and to raise awareness of Jacob’s disorder and six others that are more prevalent among Ashkenazic Jews than people from other races.
Jacob’s Ladder awards prizes to distinguished researchers making progress in areas that are aligned with Canavan Disease and the other disorders. For example, Mustafa Sahin is a specialist in the field of childhood neurological diseases from Harvard Medical School who won an award in 2017, and Jennifer Doudna, of CRISPR renown, won in 2016.
The first trial in the United States of a gene therapy for Canavan Disease took place in 1999. The patients showed improvement in their condition, but they weren’t cured. That same year, Jesse Gelsinger died after a different type of gene therapy to treat a different disease. As blogger Jovana Drinjakovic writes, his death “brought an end to human studies that lasted almost a decade, eroding public trust and leaving researchers scrambling for dwindling research funding while trying to develop safer viruses. As one gene therapy pioneer recently said to The Guardian, ‘The reputation of gene therapy went from being a cure for all known diseases to something you wouldn’t give your dog.’”
Perhaps in some cases, but developing a gene therapy for Canavan Disease was still taking place. Ashley Yeager writes in The Scientist that Paola Leone (and team), a neuroscientist at Rowan University, was conducting gene therapy research using an adeno-associated viral (AAV) vector that progressed to a first trial in 2001. Testing went through to Phase 2 clinical trials, but in 2012 they stopped. The results were promising enough for a drug company to conduct a Phase 3 trial, but there wasn’t interest due to the small patient population.
So where do things stand today? A team of researchers in Sydney, Australia, has had success in targeting the oligodendrocytes in mice with their gene therapy. Also in The Scientist article, it is reported that Leone’s group and one led by Guangping Gao, at the University of Massachusetts Medical School, continue to pursue gene therapy treatments. The approaches are very different, but, if successful, would move the needle on knowledge for other common neurodegenerative diseases because researchers would gain insight on how to use viral vectors to deliver corrective genes to other diseases.
You can learn about the AAV vector below, in the context of treating eye diseases.
Stacey Johnson
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