RARE Daily

Invitae Launches Rare Patient Network for Pediatric Patients with Rare Neurodevelopmental Diseases

December 1, 2022

Invitae has launched the Rare Patient Network, expanding Invitae’s Ciitizen platform to all patients with pediatric epilepsy and/or developmental delay with plans to include other conditions in the coming months.

Photo: Robert Nussbaum, chief medical officer at Invitae

By engaging with a broader community, Invitae aims to create value for significantly more patients with rare diseases.

Identifying and recruiting patients with rare diseases into clinical studies is difficult, making it challenging to understand the etiology, disease course, differences among subpopulations and the impact of novel treatments. The Rare Patient Network is a new approach to solving these challenges by directly engaging with the broader community of patients with rare neurodevelopmental conditions.

“The Rare Patient Network is a proactive way to empower patients,” said Terry Jo Bichell, executive director of COMBINEDBrain. “Even before a diagnosis or without a diagnosis, families who are grappling with epilepsy or a developmental delay will have a way to help each other and themselves simply by using their own medical record as a resource. When a treatment comes along, this resource will already be there just waiting to be part of the solution.”

The Rare Patient Network enables patients with rare diseases to engage with Invitae’s Ciitizen platform to participate in more clinical studies to help advance research without repeated requests from multiple sources for the same information.

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

“With the launch of the Rare Patient Network, we aim to break down silos by building the largest database of patient-consented genetic and clinical data of patients with rare neurodevelopmental disease,” said Robert Nussbaum, chief medical officer at Invitae. “We have an ambitious goal of recruiting thousands of new patients with pediatric epilepsy and/or development delay to Invitae’s Ciitizen data platform to create this database.”

Author: Rare Daily Staff

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