Nearly half of all rare diseases are neurological. The prevalence of central nervous system impacts is particularly profound among children, with more than 90% of pediatric rare conditions having major associated neurological effects. Earlier and more accurate diagnosis among children, adolescents and adults with CNS conditions is a critical need, as delays in diagnosis and corresponding missed opportunities to treat an individual or participate in a clinical trial can have significant and often irreversible impacts on outcomes and quality of life.
The Patient Identification, Inclusion & Engagement for Central Nervous System Conditions (PIE4CNS) Initiative aims to address key gaps in identifying, diagnosing, and developing treatments for rare neurological/CNS conditions.
Improving diagnosis, inclusiveness and engagement in research, clinical trials and access to diagnostic tools, genetic counseling, and medical expertise for rare CNS disorders has the potential to significantly accelerate development of urgently needed treatments, such as gene therapies, and improve outcomes for much of the rare disease community.
Phase I of the PIE4CNS initiative was launched in the Fall of 2021, and centered around engaging patients, providers, and caregivers to define and identify significant needs and barriers in their care. Phase 1 actions included a survey of patients, caregivers, and clinicians who are affected by or treat rare CNS disorders, three workshops that explored major barriers to diagnosis and identification of individuals with pediatric and adult-onset CNS conditions, and on health equity. The findings from the surveys and workshops informed a series of prioritized recommendations for action during Phase II of the PIE4CNS initiative. The surveys, workshops and corresponding recommendations for action were all guided by a multi-stakeholder Advisory Panel (listed below).
In February 2022, preliminary outcomes from Phase I of the PIE4CNS initiative were shared at the 18th Annual WORLD Symposium. Hear Global Genes CEO, Craig Martin, share insights from the presentation’s ePoster below, or contact us at [email protected] for more information.
A copy of the full report on findings and recommendations will be available shortly.
In the Spring of 2022, Global Genes will initiate Phase II of PIE4CNS, taking action on findings and prioritized recommendations identified in Phase I, and summarized below.
We welcome the participation and support of other organizations focused on progress for rare neurological conditions, including patient groups, research institutions, centers of excellence and industry, as we move together into the action phase of this rare neurological initiative.
For more information on how your organization can partner with Global Genes and other stakeholders in Phase II of PIE4CNS:
- Companies and philanthropic donors: Kathy O’Connor at [email protected]
- Patient advocacy groups: Parvathy Krishnan at [email protected]
- Healthcare and government institutions, professional, technology, diagnostics and research organizations: Craig Martin at [email protected].
Rare neurological patients, caregivers, & healthcare providers: we need your input! Please complete our survey to help us to improve the diagnostic journey, research, drug development and treatment for rare disease patients with neurological conditions. The first 50 clinicians and first 100 patients to complete the survey will receive an Amazon gift card!