SAN FRANCISCO & BOSTON, Sept. 20, 2022 (GLOBE NEWSWIRE) — Invitae (NYSE: NVTA) and Praxis Precision Medicines, Inc. (NASDAQ: PRAX) today announced that they are delivering real-world clinical insights from the Ciitizen platform Natural history data were used by Invitae to support Praxis’ Investigational New Drug (IND) submission for PRAX-222 for the treatment of pediatric patients with early-onset SCN2A developmental epileptic encephalopathy (DEE). Praxis announced earlier this month that the U.S. Food and Drug Administration (FDA) approved the IND application for the starting dose cohort for the PRAX-222 EMBRAVE clinical trial.
For many well-established diseases, natural history studies and other rich datasets 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. Furthermore, the usual method of collecting this data, by examining patients in many geographically dispersed locations, is costly, time-consuming and not well suited for rare diseases. Invitae’s Ciitizen platform enables the rapid and comprehensive collection and analysis of medical history data that aids in understanding the patient population and disease severity, can be used as medical history data for regulatory filings, and can inform clinical trial protocol design and inclusion and exclusion criteria inform studies.
“The comprehensive real-world clinical evidence generated via Invitae’s Ciitizen platform was a critical component of the PRAX-222 IND application, which integrates a significant amount of natural history data in a highly efficient manner to bring PRAX-222 one step closer to bring to SCN2A. DEE patients,” said Steven Petrou, Ph.D., the practice’s co-founder and chief scientific officer. “To make real progress and bring hope to patients living with SCN2A-DEE and their caregivers requires an engaged ecosystem and community willing to consider innovative approaches to drug development. We look forward to our continued partnership with Invitae for PRAX-222 and other precision medicines targeting rare genetic epilepsies with high unmet needs.”
The data, collected on behalf of SCN2A DEE patients or their parents/guardians, is anonymized and shared with their consent and represents the most comprehensive body of real-world clinical evidence for SCN2A DEE patients. The data generated by the Invitae platform is comprehensive and leverages HIPAA access rights to longitudinally collect complete medical records from all patient care settings. This approach addresses many of the limitations of other data sources, such as B. De-identified electronic medical records and provider claims data addressed by the FDA in recent draft guidance 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 deal with sites for recruitment and data deal collection. In addition, the real data set underlying this natural history study provides a unique data collection and sharing model where the patients, patient advocates and other researchers all have access to the collected data. Patients have full access to the records for their own use and can also participate in and stay informed about the research throughout the study, underscoring the benefits of this unique patient-centric research model.
“To my knowledge, this is the first instance of a patient-mediated medical records platform to be used as the primary natural history data source for a successful IND submission to the FDA,” said Alexandra Berk, Medical Affairs Director at Invitae. “This is an important development in terms of FDA’s openness to incorporating novel data sources into the regulatory process.”
“We are excited to be working with Praxis and seeing how the high-quality data from our Ciitizen platform can further advance patients living with this rare genetic epilepsy,” said Robert Nussbaum, MD, Chief Medical Officer of Invitae. “Our goal is to improve understanding of SCN2A-DEE and other diseases and use this data to bring new therapies to market faster. Ciitizen is a compelling platform for the rapid collection of both genotypic and phenotypic data with patient consent and commitment to natural history studies for rare diseases, data essential for regulatory processes and for the development of new therapies.”
Watch a recorded webinar with speakers from Invitae and Praxis describing this natural history data in more detail here. To learn more about Invitae’s Ciitizen platform or to request access to the approved real-world data for research purposes, email [email protected]
PRAX-222 is an ASO designed to selectively decrease SCN2A gene expression and directly target the underlying cause of SCN2A DEE with early seizure onset to treat seizures and other symptoms in patients with SCN2A gain-of-function mutations. In vitro studies with PRAX-222 have shown a reduction in both SCN2A gene expression and protein levels. In vivo, PRAX-222 has demonstrated a significant, dose-dependent reduction in seizures, improvement in behavior and locomotor activity, and longer survival in SCN2A mouse models, with the potential to be the first disease-modifying treatment. PRAX-222 has received Orphan Drug Designation (ODD) and Rare Pediatric Disease Designation (RPD) from the FDA and ODD Designation from the European Medicines Agency (EMA) for the treatment of SCN2A-DEE. The PRAX-222 program is run in collaboration with Ionis Pharmaceutics, Inc. (NASDAQ: IONS) and RogCon, Inc. To learn more about SCN2A-DEE and the EMBRAVE study, please visit https://scn2a.com/ .
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information to conventional medicine to improve healthcare for billions of people. Invitae’s goal is to consolidate the world’s genetic testing into a single service with higher quality, faster turnaround and lower prices. For more information, visit the company’s website at invitae.com.
Praxis Precision Medicines is a clinical-stage biopharmaceutical company translating genetic knowledge into the development of therapies for CNS disorders characterized by an imbalance between excitation and inhibition. Praxis applies insights from genetic epilepsies to both rare and more common neurological disorders, leveraging our understanding of shared biological targets and circuits in the brain. Praxis has built a broad portfolio with multiple programs including product candidates in movement disorders, epilepsy and psychiatric disorders with four product candidates in clinical stage. For more information, please visit www.praxismedicines.com and follow us on LinkedIn and Twitter.
Invitation to Forward-Looking Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the benefits of data generated through the Company’s Ciitizen platform. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be relied upon as an indication of future performance. These risks and uncertainties include, among others: the Company’s loss history; the company’s competitiveness; the company’s failure to manage growth effectively; the Company’s need to scale its infrastructure ahead of demand for its testing and to increase demand for its testing; the Company’s ability to use rapidly changing genetic data to accurately and consistently interpret test results; security breaches, data loss and other disruptions; laws and regulations applicable to the Company’s business; and the other risks detailed in the Company’s filings with the Securities and Exchange Commission, including those risks detailed in the Company’s Quarterly Report on Form 10-Q for the quarter ended June 30, 2022. These forward-looking statements speak only as of the date of this release, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
Forward-Looking Statements by Praxis Precision Medicines
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995 and other state securities laws, including statements, express or implied, regarding Praxis’ future expectations, plans and prospects, including but not limited to statements regarding the development of our product candidates, including the Our clinical trial designs and the treatment potential of our product candidates. The forward-looking statements contained in this press release, whether express or implied, are only predictions and are subject to a number of risks, uncertainties and assumptions, including but not limited to: uncertainties inherent in clinical trials; the expected timing of submissions for regulatory approval or review by government agencies; regulatory approvals to conduct studies; and other risks related to Praxis’ programs and operations, as described in its quarterly report on Form 10-Q for the quarter ended June 30, 2022 and other filings with the Securities and Exchange Commission. Although Praxis’ forward-looking statements reflect management’s good faith judgment, these statements are based only on information and factors currently known to Praxis. Therefore, you are cautioned not to rely on these forward-looking statements. Any forward-looking statement in this press release speaks only as of the date on which it is made. Praxis undertakes no obligation to publicly update or revise any forward-looking statements, whether as a result of new information, future developments or otherwise.
Invitae Contact: Amy Hadsock [email protected] 628-213-3283 Praxis Precision Medicines Contact: Alex Kane [email protected] 617-300-8481