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Rare Diseases: The Passing Of An Advocate

October 25, 2013

Augusto Odone, a rare disease advocate, passes away on October 24, at the age of 80.

 The 1992 classic movie by George Miller, “Lorenzo’s Oil”, follows the journey of Augusto and his wife, Michaela, to find a treatment for their son, Lorenzo, who is diagnosed with a rare disease.

Lorenzo is diagnosed with Adrenoleukodystrophy (ALD), a rare X-linked, inherited neurological disorder. ALD is a caused by a genetic abnormality affecting the X chromosome that results in a high level of fats in the blood, which leads to brain degeneration. The disease causes the breakdown of the myelin sheath (a protective and insulating membrane that surrounds nerve cells) in the brain. This can cause a decrease in motor coordination, hearing and visual problems, loss of cognitive function, seizures, and other complications, including death. ALD takes several forms, which can vary widely in their severity and progression. ALD affects about 1/20,000 boys worldwide.

“Lorenzo’s Oil” is about the family’s relentless search to find a cure for ALD. Augusto and Michaela, with no medical training, studies different areas of science and never gives up looking for a treatment for their son.  The family finds an oil that is a mixture of erucic acid and oleic acid, that is successful in normalizing the accumulation of the very long chain fatty acids in the brain, that had been causing their son’s steady decline – thereby, halting the progression of the disease. There was still a great deal of neurological damage remaining which could not be reversed until new treatments were found to regenerate the myelin sheath around the nerves. The movie stars Susan Sarandon, Nick Nolte, Peter Ustinov, and Laura Linney.

In 1989, Augusto and Michaela Odone establish The Myelin Project, a 501(c)3 non-profit organization, with the goal of accelerating research on myelin repair. Michaela dies in 2000, and Lorenzo in 2008, at the age of 30.

Gene Therapy For Adrenoleukodystrophy

Bluebird bio, a Cambridge, Massachusetts biotechnology company, develops gene therapy to treat severe genetic and rare diseases. The company has a clinical stage product in development that has orphan designation in both the US and Europe :

•   Lenti-D for the treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD).

The Starbeam Study, an international clinical research study sponsored by bluebird bio, is using the company’s investigational gene therapy for CCALD.

 Please Note : “Umbrella with 12 Spokes & Stars” by StromBer (Own work) [CC-BY-3.0] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

  1. Jean Campbell permalink

    Ana-Teresa, Thank you for sharing this sad news. While I never met Augusto, I had the pleasure of meeting his wife, Michaela many years ago at a rare disease conference in DC. She was a dynamic woman who along with Augusto were amazing advocates for their son, Lorenzo. Whenever a presenter speaks about examples of parents as patient advocates, the Odones, are at the top of the list. They have left an impressive lasting legacy for the rare disease community.

    • Hi Jean –

      Thanks for visiting the Blog & your tribute to the Odone Family. Their story/movie is still resonating with everyone, even after 20 years. Have a good weekend, Ann

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