Rare Disease | Patient Network

A patient-centered approach: The key to unlocking opportunities for novel rare disease treatments

For patients with pediatric epilepsy and/or developmental delay, Invitae’s Ciitizen platform helps accelerate new treatment options

Community and collaboration are key pillars in seeking safe, effective treatment protocols for rare diseases. For new drug researchers, this means they must involve patients early and often.

Praxis Precision Medicines, Inc. is setting the example with an innovative approach to natural history studies to better understand the lived experiences of patients. The result is faster data generation for research and the hope for better outcomes for patients with epilepsies.

For many well-established diseases, natural history studies and patient-informed data are available to support Investigational New Drug (IND) applications submitted for FDA approval. These studies document the high disease burden and substantial unmet medical needs of certain conditions and help researchers understand the patient journey.

For most natural history studies, patients must travel to a clinic on an ongoing basis, which is time-consuming and not well-suited to patients with rare disorders. It takes an average of five years to accumulate the data needed to understand the disease and its progression — a luxury that patients with rare epilepsies can hardly afford.

Praxis implemented a new approach that incorporated information from Invitae’s Ciitizen platform as natural history data to describe the experience of patients with SCN2A developmental and epileptic encephalopathy (DEE). Ciitizen enables rapid collection and analysis of medical history data.

The data generated by Ciitizen are comprehensive, using the HIPAA right of access to gather complete, long-term medical records for the patient. Critical patient data can be ready for research in months instead of years.

This approach addresses many limitations of typical natural history studies and other real-world data sources, such as de-identified electronic medical records and claims information. De-identified data means there’s no way to trace it back to a specific person. It is shared only with approved researchers with patient or family consent. All data collected on Ciitizen is de-identified to uphold patient privacy and confidentiality.

Praxis used Ciitizen data to inform clinical study design and inclusion and exclusion criteria in their IND application for PRAX-222 in development for pediatric patients with early-onset SCN2A-DEE. This is one of the first known instances of a patient-advised medical records platform being used as the primary natural history data source for a successful IND filing with the FDA. By incorporating real-world clinical information from Ciitizen, Praxis accelerated the time to collect data imperative for an IND application.

Importantly, through the Ciitizen model, patients have complete access to the records for their own use. They can remain involved and informed about the research throughout the study, highlighting the benefits of this patient-centered research model.

With the Rare Patient Network launch, Ciitizen is now open to all patients with pediatric epilepsy and/or developmental delay. We aim to create more value for patients by providing easy access to the data in their own medical records, making it easier to share data with innovative researchers focused on discovering new treatments, like Praxis.

Learn how you can get involved today by visiting the Rare Patient Network.