RARE Daily

CZI Grant to FOXG1 Research Foundation Seeks to Accelerate Drug Development with Machine Learning

November 23, 2020

Rare Daily Staff

The Chan Zuckerberg Initiative has issued a nearly $500,000 grant to the FOXG1 Research Foundation to allow patient-led advocacy groups to use machine learning to help accelerate rare disease drug development.

Understanding the natural history of a disease is an essential element to inform drug development. For rare diseases, there is often insufficient natural history data, making it difficult to advance the care of children and adults living with a rare disease.

For many rare diseases, there are fewer than 1,000 patients worldwide. That makes collecting necessary data from all patients critical to accurately understand the disease. Currently, patients must travel to select academic centers to be part of these studies. This becomes difficult for patients with complex medical needs, accommodation challenges, and for those who cannot lose work time. These aspects reduce participant enrollment and retention. Costs to patient organizations for studies can exceed $10,000 per subject per year and participants typically do not have access to study results — all limiting patients’ access to and engagement in rare disease research.

The Chan Zuckerberg Initiative grant to the FOXG1 Research Foundation is launching a study using technology and machine learning to digitally collect and analyze critical patient data to scale rare disease research without exponential cost. Most importantly, the model allows patients direct access to their consolidated, digitized data that also uniquely summarizes their experience, which can be used to get second opinions or share with multiple providers to facilitate and improve their care.

“In order to find cures for rare diseases, all aspects of drug development need to be democratized, especially the collecting, analyzing, and sharing of patient data to better understand unknown diseases,” said Nasha Fitter, CEO and cofounder of the FOXG1 Research Foundation. “This has to be easy for the patient, affordable for the advocacy group, and totally accessible for researchers.”

The new digital natural history platform is launching with four rare disease groups: FOXG1 syndrome, SLC13A5 deficiency, SYNGAP1-related disorder (SynGAP Research Fund) and Rett Syndrome (Rett Syndrome Research Trust). For some of these groups, natural history studies already exist, and this digital platform will augment the existing natural history dataset. Accumulating data on multiple rare disease groups also enables cross-referencing for potential therapies.

In a partnership with Ciitizen, a Palo-Alto medical records platform provider, the rare disease groups kicking off this new model will onboard patients (caregivers) to sign up on the platform that will digitally collect the patient’s medical records on their behalf, and then the anonymized data will be extracted and available for clinicians, researchers and biopharma to aid in research and therapy development.

Researchers will be able to access large amounts of data for these small diseases to help determine clinical endpoints for potential treatments.

Photo: FOXG1 Research Foundation co-founders Nasha Fitter and Nicole Johnson

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