A nonprofit in Aliso Viejo fights for those battling rare neurological disorders.
Global Genes—an advocacy organization focused on improving the lives of patients with rare central nervous system (CNS) disorders—announced Aug. 26 the launch of an initiative called the Patient Identification and Engagement for Rare CNS Disorders, or “PIE4CNS.”
Global Genes, established in 2008, aims to serve the 30 million Americans affected by these types of rare diseases, and over 400 million worldwide. It seeks to foster community among patients and their loved ones and eliminate the challenges rare genetic diseases pose.
“The role we play is a convener or enabler,” Chief Executive of Global Genes Craig Martin told the Business Journal. “We look at the overall burden of a disease on a family, and where we can help to alleviate that burden.”
PIE4CNS will address “major gaps” in the diagnosis of rare CNS diseases—a process that typically takes six to eight years due to patient inequity and lack of access to screening tests, genomic sequencing, and expertise, the organization reported.
The initiative will also prioritize finding patient populations for clinical research in gene therapy and other technologies to advance treatment, the organization said, adding that 80% of rare diseases have identified genetic origins.
“We are now experiencing significant progress in gene therapy and other platform approaches targeting rare diseases, with a number of them focused on devastating CNS conditions for both pediatric and adult populations,” Martin said. “But if we don’t have the systems and infrastructure in place to effectively diagnose, reach and engage as many patients as possible in drug development and clinical trials, those promising therapies may not make it to patients.”
The Action Plan
The PIE4CNS initiative includes an advisory panel of experts from clinical, research, advocacy and industry backgrounds to guide the effort, the organization said. Based on their findings, the initiative will develop a report and recommendations for action in 2022. These will be the basis for a “second, broader phase of activities” for the initiative.
Philadelphia’s Passage Bio and Boston-based Alexion Pharmaceuticals fund the initiative, the organization said.
“The challenges that this initiative is designed to address are absolutely critical to companies like ours that are focused on meeting the urgent needs of patients with CNS conditions,” Passage Bio CEO Bruce Goldsmith said in a statement.
“We are pleased to be part of this initiative and to work together across the rare disease ecosystem to find ways to get patients diagnosed earlier, which typically will result in better outcomes for them. We also must reach and include more diverse patients—especially from communities of color—because they are also impacted by rare diseases and yet often underrepresented in clinical trial programs.”
Additional support is provided by SIO Gene Therapies and Taysha Gene Therapies.
