The Patient Identification, Inclusion & Engagement for Central Nervous System Conditions (PIE4CNS) Initiative, being launched in partnership with the Child Neurology Foundation and other partners, aims to address critical gaps in identifying, diagnosing, and developing treatments for rare neurological conditions.
Improving diagnosis, inclusiveness and engagement in research, clinical trials and access to diagnostic tools and 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.
Nearly half of all rare diseases are neurological conditions. The impacts are particularly profound among children, with more than 90% of pediatric rare conditions having major associated neurological effects.
This initiative will engage patients, providers, and caregivers to define and identify significant needs and barriers in their care. Surveys and workshops will inform and prioritize actionable efforts such as:
- Access to appropriate screening tests, whole genome and exome sequencing, and expertise to support earlier and more accurate diagnoses
- Challenges and inequities in reaching, connecting, and engaging underserved populations
- Inclusive recruitment of patients to participate in drug development and clinical trials
The PIE4CNS program will begin with a pulse survey of patients and caregivers and clinicians who treat rare CNS disorders. Global Genes will host workshops to explore challenges to rare pediatric and adult onset CNS conditions, with a priority focus on health equity. Based on the findings of the surveys and workshops, we will issue a report with recommendations for action to improve outcomes and shorten the diagnostic odyssey for rare CNS patients.
To help guide the effort and identify key challenges from clinical, research, advocacy and industry perspectives, PIE4CNS includes an advisory panel of experts (listed 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. If you’re interested in learning more, please contact [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!