The following recently appeared on the American Parkinson Disease Association website.
On July 31st, the Austrian biotech company, AFFiRiS AG announced the results of an early-stage trial of a vaccine intended to treat Parkinson’s disease. This is the first such study in Parkinson’s, although there has been work with similar strategies in Alzheimer disease. The vaccine called PD01A targets the protein alpha-synuclein, which builds up in the brain in Parkinson’s. The main goal of the AFFiRiS study was to assess safety. The study was small, involving only 36 people, but the outcome was positive in that the treatment appears to be safe. The numbers were too small to conclude anything about whether or not it was effective, but this success does allow this new treatment approach to move on to larger studies.
Dr. Alice Lazzarini is a geneticist who participated in the discovery of the importance of alpha-synuclein, and also a PWP (Person with Parkinson’s disease). She offered her own perspective on this news:
“It began, for me, in 1990 when Dr. Roger Duvoisin recruited me to his department of Neurology at UMDNJ-RWJMS to work on the genetics of ataxia. However, no one worked for “Dr. Parkinson,” as he was known by the neurology community, or “The Boss,” as he was affectionately known by his faculty, without getting hood winked into working on Parkinson’s.
One day, The Boss came to me and said, “Alice I want you to prove Parkinson’s is genetic.” I gulped, rolled my eyes, and wondered how I was ever going fulfill his tall order. Roger had been a strong proponent of an environmental cause of PD, but reassessing data from his twin studies and finding the Contursi Kindred—a family with autopsy proven Parkinson’s—made him publically reverse his own position.
Up until then, there had been little credence given to PD being genetic. The 1994 paper in the journal Neurology, in which I reviewed hundreds of medical records from the Boss’s PD families, helped to turn the tide of thinking toward a genetic component. When the Boss shared the extensive Contursi pedigree with the folks at NIH, and along with funding from the APDA, we began a collaboration that resulted in discovering the causative gene. A mutation in the alpha-synuclein gene, designated PARK1, was consistently inherited only in those family members who had PD.
It is now over 15 years and many millions of dollars later and we still don’t know exactly what alpha-synuclein does in the normal brain. However, we are making great progress in devising ways to counter its effects in the parkinsonian brain, progress that might not have been made without the vision of a man who had the tenacity of a salmon swimming upstream.
As a PD patient, my heart sank to learn that the faulty alpha-synuclein replicates itself, spreading from cell to cell. I was buoyed, however, when the research team of Drs. Virginia Lee and John Trojanowski demonstrated that a specially formulated antibody can work outside a diseased cell to neutralize this effect, and that it not only prevented the spread of alpha-synuclein, but it improved symptoms in a mouse model of Parkinson’s. Now I am overjoyed to learn that AFFiRiS has demonstrated the safety of this approach in humans with a Phase 1 study, AND that they have early evidence to suggest symptomatic benefit in Parkinson’s patients.”
AFFiRiS is conducting a follow up study testing a boost vaccination, in Vienna, Austria starting in September 2014. To learn more about the PDO1A study see:
Dr. Alice Lazzarini:
Named a Top 20 Author of PD papers between 1996 and 2006, Dr. Alice Lazzarini raised a family as she trained to be a genetic counselor and then went on to finish her PhD at age 56. Her career has included 11 years coordinating a statewide program for Huntington disease families, contributing to the literature on neurogenetic disorders such as Huntington’s, Restless Legs the ataxias and Parkinson’s, and working on the development of a Parkinson’s drug for a large pharmaceutical company. She is publishing a memoir [Both Sides Now: A Journey From Researcher to Patient], about her experiences doing research at a time when The Human Genome Project was becoming a household word. You will enjoy Alice’s often-humorous perspective as she shares her personal journey from sheltered childhood to successful female scientist.
 Neurology 44:499-506, 1994
 Science 276:204507, 1997
 Cell Reports 7:2054-65, 2014