As federal regulators listened, patients told them of their symptoms – the sleepless nights, the days with uncontrollable tremors or the little struggles simply maintaining their balance.
Some of those with Parkinson’s who spoke at the special U.S. Food and Drug Administration meeting in late September, said they depended on drugs like Sinemet or therapies like deep brain stimulation to treat their symptoms. But they also said that the randomness, variability, and unpredictability of their symptoms – and the side effects of treatments – has kept them always looking for more effective ways to deal with their Parkinson’s disease.
Part of a series called the Voice of the Patient, which has included other meetings on such things as breast cancer, sickle cell anemia and HIV, the half-day session included input from dozens of individuals living with Parkinson’s and their caregivers, as well as overviews from the regulators. Hearing directly from those living with the disease and using treatments, is a fresh approach.
“We strongly believe that the patient perspective is key to understanding how to approach and manage a disease as well as the development of new treatments,” said Paul Cannon, 23andMe’s Parkinson’s Disease Program Manager.
One of those patients speaking at the session was Karl Robb, 48. Karl, who was diagnosed with Parkinson’s at 25, told the panel that it’s the unpredictability and severity of the symptoms that makes it so difficult living with the disease. He deals with it the best he can, maintains a healthy lifestyle and swears by his vegetarian diet. But like many he communicated the struggles of dealing with an ever-changing landscape of symptoms and the need for better drugs to battle back the effects of the disease.
Other patients echoed many of the points made by Karl. They spoke about having to continually adjust their medicine based on how the disease progressed and their symptoms changed. Often patients said a drug lost effectiveness over time, or triggered side effects that became more and more of a concern. For instance, Daniel Lewis, who was diagnosed with Parkinson’s disease 21 years ago, said that after taking Sinemet for eight years he began to develop bad dyskinesia. While deep brain stimulation helped, it doesn’t address issues he has with speech and sleep problems, he said.
This was the kind of feedback that the FDA was after when the first started having these meetings. Officials at the agency said they realized that some of the best “data” on treatments and drug development comes directly from patients.
In part that is what drives 23andMe’s research model, where we invite individuals to participate in research. And at the FDA meeting our Paul Cannon drove that message home and shared with the agency some of the value of 23andMe’s online disease community and our own data from patients, who have shared their experience with Parkinson’s.
23andMe now has the largest community of genotyped Parkinson’s patients with more than 11,000 participants, who have not only been genotyped but who also participate in surveys that track progression of the illness, symptoms and reactions to medication. The nature of the online community allows 23andMe to quickly and effectively conduct research, and it allows those with Parkinson’s who would otherwise be unable to participate in traditional research to become part of it.
What 23andMe researchers have learned from our Parkinson’s community includes a lot of important baseline kind of information such as the symptoms that have the greatest impacts on their lives – disturbed sleep, fatigue and pain – and how well their medication works throughout the day. There’s also a lot of information collected by 23andMe that helps put into perspective how isolating Parkinson’s can be for some patients and how it impacts their lives. For many, in fact a majority of those surveyed, the self reported impact of the disease on their quality of life on their good days was none to slight. This may reflect the relatively short duration (average 4 years from diagnosis) of the 23andMe cohort, but even so this drops to less than half on their bad days and a significant majority report an impact of the disease on family and social interactions.
According to the 23andMe findings, more than 80 percent of research participants said that current treatments work well or moderately well to handle their symptoms. Yet almost a quarter of participants reported that medication was effective only about 50 percent of the day or less and significant numbers complained about wearing off (leading to a requirement for frequent dosing), lack of efficacy against specific symptoms and bothersome side effects.
Individuals living with Parkinson’s disease are all too aware that it is a progressive disorder, and in a response that was also stated several times at the FDA meeting, almost 80 percent of participants in 23andMe Parkinson’s Research Community said they want new treatments to slow or stop the progression of the disease.
his is the world that many of those living with Parkinson’s live in, one that includes hopes for the future, but also fears about how their illness will progress and whether current medication will remain effective.
Rebecca Houde, who spoke at the FDA meeting, said worries about her future. Only 33, she was first diagnosed at 24. She’s undergone deep brain stimulation surgery, has dealt with increasingly severe dyskinesia and has had some cognitive difficulties. To cope with some of her symptoms she takes small doses of Sinemet every hour and is also taking 14 other medications. All that leaves her wondering about how to stay ahead of her symptoms.