Global Genes Launches RARE Patient Identification and Inclusion Initiative

Global Genes, a leading international rare disease advocacy organization, today announced the launch of a Patient Identification and Engagement for RARE CNS Disorders (PIE4CNS) multi-stakeholder initiative. The PIE4CNS initiative will address major gaps in the timely and comprehensive diagnosis of rare central nervous system (CNS) related conditions, and difficulties in finding and inclusively engaging patient populations in clinical research in gene therapy and other promising technologies that may yield significant advancements in treatment of rare diseases.

Recent estimates suggest as many as 90 percent¹ of all pediatric rare diseases have a neurological (CNS) component to them. In addition to being rare, these CNS conditions are often very difficult to identify, characterize and treat due to complexities such as lack of access to screening tests, genomic sequencing and expertise to diagnose early and accurately; objectively observing and understanding the impacts of these conditions on developmental or other related milestones and symptoms; and difficulties and inequities in reaching, connecting and including underserved populations.

“Fortunately, 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,” said Craig Martin, CEO of Global Genes. “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 PIE4CNS initiative includes an advisory panel of experts from clinical, research, advocacy and industry backgrounds to help guide the effort to identify key challenges from the perspectives of each represented stakeholder group. As part of the initiative three workshops will be held to explore unique and common challenges specific to rare pediatric and adult-onset CNS conditions, as well as from a health equity perspective. Based on the results of the workshops, the initiative will develop and issue a report and recommendations for action in 2022, which will be the basis for a second, broader phase of activities for the initiative. Foundational funding for the initiative is being provided by Passage Bio and Alexion, with additional support from SIO Gene Therapies and Taysha Gene Therapies.

“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,” said Bruce Goldsmith, Ph.D., President and CEO of Passage Bio, a founding partner of the initiative. “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.”

Advisory panel members for the PIE4CNS include:

• Amy Brin, CEO & Executive Director, Child Neurology Foundation
• Anna Bican, CCRP, Site Coordinator, Vanderbilt, Undiagnosed Diseases Network / PEER
• Cindy Jackson, D.O., F.A.A.P., COO, I-ACT for Children
• Matt Might, Dept. of Medicine Director, Hugh Kaul Institute of Precision Medicine, UAB, Chief Scientific Officer, NGLY1 Foundation
• Mary Anne Meskis, Executive Director, Dravet Syndrome Foundation
• Terry Jo Bichell, PhD, MPH, Executive Director, COMBINEDBrain
• Tracy Dixon-Salazar, PhD, Executive Director, Lennox-Gastaut Syndrome Foundation
• Vanessa Vogel-Farley, Executive Director, Dup15Q Alliance, Founding Partner, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, Research Data Consultant, RARE-X
• Wendy Erler, Global Head Patient Experience, Insights and Advocacy, Alexion Pharmaceuticals, Inc.
• Mark Forman, MD, PhD, Chief Medical Officer, Passage Bio

For more information about this initiative and the rare disease community please visit: https://globalgenes.org/rare-neuro-patient-engagement.

View the press release here.

About Global Genes®

Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of our mission, we connect, empower, and inspire the rare disease community to stand up, stand out, and become more effective on their own behalf ⁠— helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. We serve the more than 400 million people around the globe and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit our Resource Hub.