PD GENEration Receives Additional Funding, Continuous Ocrelizumab Effective in Progressive MS, Guidelines for Down Syndrome Published

This week Neurology News Network covered PD GENEration, an initiative from the Parkinson's Foundation that provides genetic testing to those with Parkinson disease, the phase 3 ORATORIO study of ocrelizumab in patients with progressive multiple sclerosis, and the first set of evidence-based medical care guidelines for adults with Down syndrome.

Welcome to this special edition of Neurology News Network. I’m Marco Meglio. Please excuse our appearance this week as a majority of the US workforce, including the NeurologyLive team, moves to working remote as we come together to help reduce the spread of the novel coronavirus.

The Parkinson’s Foundation and Sanofi recently announced a collaborative research effort that will advance the availability of genetic testing and counseling for people with Parkinson disease. Over the next 2 years, Sanofi will provide $1 million in research funding to support the PD GENEration: Mapping the Future of Parkinson’s Disease initiative, a first-of-its-kind national study that offers free genetic testing and counseling for people with PD. The initiative was first announced in July 2019, and includes a 4 step process: Attending an appointment at a Center of Excellence or Parkinson Study Group site, developing the results, meeting with a health care professional, and filling out a post-process survey. The study will focus on 7 main genes related to PD, including GBA, LRRK2, and SNCA. Findings from PD GENEration also will contribute to the biological understanding of the disease, helping researchers assess the impact of each mutation and which ones may cause the disease. Currently, genetic tests for PD are not covered by health insurance, nor is genetic counseling, which helps patients interpret test results and make sound decisions regarding their clinical care.

Results from the ongoing, long-term open-label extension of the phase 3 ORATORIO study demonstrated that earlier and continuous treatment with ocrelizumab provided sustained benefits on measures of disease progression in patients with primary progressive multiple sclerosis compared with patients switching from placebo.Investigators found that the proportion of patients with progression of disability measures was lower for those who initiated ocrelizumab early than for those initially receiving placebo for most of the measures of 24-week confirmed disability progression across 6.5 study years of follow-up. The proportion of patients with significantly lower EDSS scores was higher in those receiving continuous ocrelizumab (64.8%) than in those switching to ocrelizumab (51.7%), a difference of 13.1% after the full follow-up. Similar results were seen on 9-Hole Peg Test, Timed 25-Foot Walk, and composite progression.

The first set of evidence-based medical care guidelines for adults with Down syndrome has been published after 4 years of rigorous coordination and compilation, with particularly notable recommendations for Alzheimer disease screening among these patients, which the group stated should begin at age 40 years. Those with Down syndrome are at high risk for the development of Alzheimer, and autopsy assessments have revealed that by age 40 years, almost the entirety of this patient population have significant levels of amyloid-beta and tau tangles.According to the National Down Syndrome Society, roughly 30% of those with Down syndrome in their 50s have Alzheimer dementia, rising to about 50% for those in their 60s.The guideline authors, including Amy Y. Tsou, MD, MSc, co-director, Evidence-Based Practice Center, ECRI Institute, noted that since 1983, the life expectancy for people with Down syndrome has more than doubled, from 25 to 60 years, and as this population includes more than 200,000 individuals, guidance such as this is needed to support high-quality care.

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