NEW YORK – Invitae's Ciitizen platform recently supported the submission of Praxis' investigational new drug (IND) application for an experimental treatment for pediatric patients with early-onset SCN2A developmental and epileptic encephalopathy, providing a glimpse into the patient-mediated medical records platform's potential to aid the collection of data that has faced numerous challenges.
"This represents one of the first times this has been done for an IND filing in rare diseases," said Ellie Brimble, Invitae's head of clinical strategy, patient network and data. "We hope that this represents an opening of the floodgates, where we can continue to have a bigger impact for a broader group of patients."
Invitae's recently launched platform could serve as an alternative to data collected via natural history, which is traditionally defined as the course a disease takes in the absence of intervention in individuals with the disease, from onset until either resolution or the individual’s death. Rich natural history datasets exist for many well-characterized diseases and often support IND applications and other interactions with regulators.
The natural history of many rare diseases, however, is poorly understood. Even collecting natural history for these disorders presents significant challenges due largely to low numbers of affected individuals, who typically live very geographically dispersed from each other.
"That's really what Praxis was using as part of their IND filing," Brimble said, "essentially as a substitute for a traditional natural history study."
The Ciitizen platform, which Invitae acquired last year and launched earlier this year, aims to address these challenges by enabling users to gather, store, and organize their own medical records in a single place online, to maintain these records throughout the course of their lives, and, importantly, to control third-party access to them.
Ciitizen, Brimble said, makes it "relatively easy for patients to see where they've requested records from, which records have come in, where their medical records are in that collection process, and then they're able to organize and share those records from the platform."
Information held on the platform includes diagnoses and symptoms and any diagnostic workup an individual has undergone, along with any associated findings and the corresponding physicians' interpretation. Advanced data analytics and artificial intelligence functionalities within the platform further help to identify associations between genomic information, diseases, and outcomes.
Another key functionality of the platform is the ability it grants to track adverse events over the course of clinical studies.
"Adverse events are variably documented in the medical record," Brimble said, "so when it is present, we can absolutely cover it. This is where having the connection to the patient becomes really valuable, because [we] can engage them over time to help [report] things that may be less consistently documented."
In addition to Praxis, the rare disease research and advocacy organization Rare-X has also begun using the Ciitizen platform to compile data on as many rare diseases as possible, with the eventual goal of building the world's largest rare disease data-sharing library, aimed at supporting global collaboration in rare disease research.
"The [Ciitizen] collaboration began with the desire to ensure that patient-level data could interoperate with other data and break down siloed data that creates unnecessary barriers to access and usage," said Nicole Boice, founder and executive director of Rare-X.
Boice added that Rare-X and Invitae are actively seeking to identify other pilot studies that would benefit the rare disease communities that both support.
As part of this collaboration, Ciitizen will participate in the first Open Science Data Challenge that Rare-X will host beginning in March 2023, with an emphasis on rare neurological diseases.
The clinical data stored on the Ciitizen platform is formatted to easily integrate with genetic data, advancing Invitae's goal of integrating genetics into routine healthcare.
"We are excited about use cases where we would be able to combine this rich clinical data that we're collecting through the Ciitizen platform with a genomic dataset," Brimble said. "I think there are a lot of opportunities there."
Although Brimble said that Invitae is in "early conversations" with several potential partners interested in such combined datasets, nothing has been signed yet.
"We expect that our data would be able to support more exploratory use cases around identifying drug targets," Brimble said, "[and] all the way through to the post-market setting where we're monitoring prescribing practices."
While Brimble said that most of Invitae's emphasis and early success in using the Ciitizen platform has been in the preclinical space, "we have every reason to believe that the data we're collecting and generating can be used to either confirm or support efficacy, meaning that it would be well suited to [a new drug application] as well."
Invitae expects that many of these use cases will fall into the rare disease category, where interest in using real-world data has steadily grown. Brimble commented that within this space, the US Food and Drug Administration has shown "greater acceptance and openness" to the use of real-world data in making regulatory decisions.
"Real-world data could have a larger impact for rare disease," she said, "and Praxis actively engaged Ciitizen as a partner in order to accelerate their epilepsy program."
For the next year, most of Invitae's plans with respect to the Ciitizen platform focus on improving the patient experience and expanding both the use cases and therapeutic areas it can support.