“Over the next five to ten years, we want to make Huntington’s disease an increasingly treatable condition.”
This bold and inspiring statement was made by Dr. Ray Dorsey at the inaugural HD-CARE symposium for Huntington’s disease (HD) research held at UC Irvine last month. The event brought together scientists, doctors, patients, family members, and caregivers to discuss the latest discoveries in HD research and to talk openly about how we can address the unmet needs of patients suffering from this terrible, deadly neurodegenerative disease.
The symposium was hosted by HD-CARE, a non-profit organization established three years ago to support HD research and patient care. Frances Saldaña, HD-CARE president and a CIRM patient advocate, established this symposium with the goal of bringing new hope to HD patients and their family members.
The symposium featured talks by scientists and doctors that spanned a broad range of topics including the recent progress of using human stem cells to model HD, the hope and hype of gene editing, and the benefits of in vitro fertilization (IVF) for HD families.
Dr. Ray Dorsey, Professor at the University of Rochester Medical Center, gave the keynote address. Inspiring from the start, he captured the audience’s attention by posing the question, “Why are we here?” To which he answered, “I think we are here to change this sign, which says Huntington’s disease is a fatal genetic neurodegenerative disease, to one that says HD is an increasingly treatable condition. Over the next five to ten years, we want to make HD an increasingly treatable condition.”
Referencing the HIV epidemic in the 1980s, Dorsey pointed out that there is precedent. What was thought to be a disease with a rapid death sentence is now, decades later, a treatable condition, and his belief is that the same can be done for HD patients in the near future.
Dorsey next highlighted major clinical advances in HD treatment including a record ten drugs currently in development in 2016. Treatments that he felt had particular promise included a gene silencing therapy by Ionis Pharmaceuticals, which is the firsttreatment being tested in clinical trials that targets the cause of HD. Dorsey also mentioned two drugs, Pridopidine and SD-809 (a modified version of the FDA-approved drug Tetrabenazine), that are used to treat symptoms of HD.
My favorite part of the talk was the end where he described his latest efforts to develop digital biomarkers that use smart phones and wearables to monitor a patient’s response to HD treatments in their own home. This technology will not only make it easier to determine which treatments are effective for HD, but will also improve the quality of care patients receive during clinical trials.
Battle cry for change
While the science at the symposium was certainly encouraging, the voices of the patients and patient advocates made the strongest impression. Many of them spoke out to share their stories or ask questions. Others, like Saldaña, advocated for faster progress towards a cure.
A particularly moving event was the presentation of the 2016 Patient Advocacy Award to Julie Rosling. Members of the HD-CARE board presented Rosling with a trophy to honor her brave efforts in advocating for HD patient rights. Saldaña described how Rosling was fearless at a HD patient-focused drug development meeting with the FDA in DC last fall. Along with other patients, she stood up and challenged the FDA to move HD into the fast track category for approving clinical trials.
A similar demand for regulatory change was brought up during the symposium regarding the approval of stem cell treatments for HD. As the representative for CIRM, I had a few moments to talk about our new Stem Cell Champions campaign, which is actively recruiting patient advocates that can work with us to help make the FDA approval process for stem cell treatments faster and more efficient. Our colleagues at Americans for Curesalso spoke briefly about their efforts to promote the acceleration of stem cell treatments and improve the lives of HD patients.
By the end of the symposium, there was an overwhelming feeling of accomplishment and more importantly a renewed sense of hope for the future of HD treatments.
“It was extremely successful and I believe everyone left feeling very optimistic about the future for HD families,” said Saldaña. “There is a light at the end of the tunnel.”