Invitae and Praxis Precision Medicines Inc. announced that real-world clinical insights from Invitae's Ciitizen platform were utilized as natural history data to support the submission of Praxis' Investigational New Drug (IND) application for PRAX-222 for the treatment of pediatric patients with early-onset SCN2A developmental and epileptic encephalopathy (DEE). Praxis announced earlier this month that the U.S. Food and Drug Administration (FDA) cleared the IND application for the initial dose cohort for the PRAX-222 EMBRAVE clinical study. For many well-established diseases, natural history studies and other rich data sets are available to support regulatory interactions and IND applications. For many rare diseases, including certain severe genetic pediatric epilepsies such as SCN2A-DEE, natural history studies are not yet available to document the high disease burden and significant unmet medical need.

In addition, the usual method of collecting these data by having patients seen at many geographically dispersed sites is cost intensive, time consuming and not well suited to rare disorders. Invitae's Ciitizen platform enables the rapid and comprehensive collection and analysis of medical history data, which supports understanding of the patient population and disease severity, may be used as natural history data for regulatory submissions, and can inform protocol design and inclusion and exclusion criteria for clinical studies. The data, collected on behalf of SCN2A-DEE patients or their parents/guardians, is de-identified and shared with their consent, and represents the richest aggregation of real-world clinical evidence for SCN2A-DEE patients. The data generated by Invitae's Ciitizen platform is comprehensive, leveraging the HIPAA right of access to gather full medical records, longitudinally, from all of the patients' sites of care.

This approach addresses many of the limitations of other data sources, such as de-identified provider electronic medical record and claims data, that were raised by the FDA in recent draft guidance documents on the use of real-world data in regulatory submissions. This novel data collection and extraction model also addresses many of the logistical, financial and methodological limitations of site-based natural history studies, by rapidly enrolling a diverse and representative sample of patients directly without the need to engage with sites for recruitment and data collection. Additionally, the real-world data set underlying this natural history study provides a unique data collection and sharing model wherein the patients, patient advocacy groups and other researchers all have access to the data collected.

Patients have complete access to the records for their own use and are also able to remain involved and informed about the research throughout the study, highlighting the benefits of this unique patient-centered research model.