Written by

Sarah Chamberlin, founder and executive director, flok Health

This article refers to a class of disorders known as inherited metabolic disorders (IMD), also referred to as inborn errors of metabolism (IEM). flok uses IMD, and more specifically those with inherited conditions of protein metabolism to describe the community we serve.  

The rise of artificial intelligence (AI) and machine learning have transformed medical science over the past decade, sparking breakthroughs for many common conditions. People born with rare inherited metabolic conditions, however, have yet to benefit from these advancements. Dr. Robert Guthrie’s invention of the newborn screening test for PKU in the 1960s led the way for early detection and intervention for PKU and dozens of other similar conditions, transforming quality of life for tens of thousands who cannot metabolise specific amino acids. While his breakthrough reshaped care for these conditions, progress since then has been incremental, leaving critical gaps in care.  

The data essential to leveraging machine learning to advance research for rare IMDs does not yet exist. Without data-driven insights for new interventions, the treatment approach for these conditions remains largely the same: a restrictive, challenging, and costly low-protein medical diet, with FDA-approved treatments available to a limited segment of the population. Even with diligent management, diet alone fails to prevent many symptoms, and many experience complex medical problems, neuropsychological challenges, and loss of life. The IMD community has significant unmet needs. We deserve to benefit from the data-driven advances that are reshaping other areas of medicine.  

flok’s work positions our community to both drive and reap these benefits. We are integrating pathways for research into the daily care tools our community relies on. This empowers the metabolic community to create the dataset they need to make real medical breakthroughs. flok’s work will demonstrate how rare patient populations can collaborate across conditions to drive the change they need. With a rich longitudinal understanding of the lived experiences of our conditions, researchers can innovate and develop treatments that move beyond the modalities we have used for decades. flok rallies our community to advance progress by providing tools that make daily care easier, help them better understand their own health, and overcome a key barrier in the research of our community: lack of data. 

Developing data-driven tools for the complex daily care of IMDs  

Those with IMDs both require and generate significant data in their daily care, but the potential of that data to improve care is untapped. The primary treatment for IMD of protein metabolism is a low-protein diet, formula to provide protein without the toxic metabolite, and regular monitoring of chemical biomarkers, generally through blood tests. Clinicians then evaluate intake and blood levels to adjust diet to maintain levels within treatment range.  This requires strict monitoring and tracking of dietary intake including protein, selected amino acids, and calories. flok grew out of National PKU News, founded in 1989, which for years published The Low-Protein Food List for PKU, the primary patient data source for dietary management. In 2013, I came to that organisation with a daughter newly diagnosed with PKU and we moved that data online to make it more accessible to our community. In the 10 years since we launched HowMuchPhe.org, users have searched and tracked 10 million food values, with more than 1,000 active daily users accessing the platform to manage their low-protein diets – including those with allied disorders outside of PKU. We recognised the potential of even more sophisticated care tools to expand and unite the metabolic community, provide a holistic picture of health, and channel our engagement to fuel data-driven research. 

The flok App: making daily IMD care easier  

The flok app, which launched in Open Beta for the United States on November 11, 2024, widens the lens of care to serve those with classical homocystinuria, maple syrup urine disease, organic academia’s, phenylketonuria, tyrosinemia, and urea cycle disorders. Despite differences in the underlying biochemical characteristics of their conditions, these groups share a common treatment—the low-protein diet—and common needs: a less-restrictive diet, simplified nutritional management, a deeper understanding of their conditions, new treatment options, and ultimately, cures. The flok app moves us, collectively, towards all these goals at once. 

Core features of the flok app include: 

• Eat: Track dietary intake from the largest continually updated database of low-protein foods, with detailed information on calories, whole protein, and six amino acids. Find nearby stores and restaurants offering low-protein options. 
• Feel: Log moods, symptoms, medications, lab test results, and additional medical diagnoses for a comprehensive profile of overall health.  
• Move: Monitor sleep, heart rate, and activity levels to understand how they impact metabolic health, with the option to connect wearable devices for passive data collection. 
• Coordinate Care: Share profiles with multiple caregivers and generate reports for medical teams to improve communication and bridge gaps in care between clinic visits.   

Making research engagement more rewarding 

Given the complexity and rare nature of our conditions, traditional data collection approaches face many limitations: they are infrequent, cumbersome, and rarely return actionable data to the community. Clinical research is hindered by travel barriers and burdensome trial protocols, resulting in low enrollment and insufficient data to drive meaningful outcomes. These challenges often prevent findings from progressing to real-life improvements in the care and treatment of our conditions. flok is breaking down these barriers, ensuring that a better understanding of our conditions is more than just a possibility—it is a direct result of engagement with the flok app. Our tight integration of care and research will build a revolutionary research dataset for our community that supports both future discovery, and actionable information for daily care today.  

flok users benefit from:  

• engagement with a community aligned in experience and need 
• the ability to build and share comprehensive health reports to support personal goals and inform clinical care  
• annual natural history reports for each condition   
• consolidated access to information on available treatments 
• opportunities to engage in outside research and trials 

Fueling research with a unique dataset 

In addition to its real-time care benefits, the flok app also drives future discovery in how our conditions are understood and approached. As data flows into the flok research platform, our AI and predictive models will identify patterns and extract insights. We strive to establish flok as a dedicated center of research in collaboration with other patient-support organisations and experts to guide clinical trials and steer treatment innovation. Our research aims to: 

• predict biomarkers that may indicate impending metabolic crises 
• model health impacts and co-morbidities 
• refine phenotypic models of our conditions 
• compare and improve standards of care across treatment centers 
• anticipate potential response to treatments based on genetic and phenotypic variations 

“The genomic, environmental, and phenotypic data that flok app users can choose to share will reveal new insights for better treatments for their conditions and advance science more broadly.”

-Dr. Ashley Conard, Computational Biologist, flok scientific advisory board, Microsoft Research and The Broad Institute 

This dataset will allow researchers to pinpoint intervention areas and develop innovative treatments, with possibilities for advancements increasing exponentially as data mounts. Community engagement is the backbone of our approach, built on a foundation of trust we have nurtured over three decades, and a rigorous consent framework guided by community input. 

Community-owned datasets, built on trust 

flok has spent years cultivating trust within the metabolic community through reliable tools and inclusive programming. Our mission—improving care and accelerating research—is supported by a community ready to contribute to this shared goal. Users of the flok app can choose to share de-identified data on the flok research platform, which is protected by a data governance model designed by leaders in patient-led consent frameworks. In collaboration with Microsoft’s Project Resolve, we are designing consent flows that put users in control. Mary L. Gray, senior researcher at Microsoft Research, emphasises the significance of this approach: 

“The work flok is doing creates an opportunity to reset our relationship with biomedical research to include the source of expertise—the community—as participants, and not just data points.”

Defining our own futures through data  

Patient-led research is an emerging model in biomedical science that prioritises the lived experiences of participants. The flok approach goes beyond asking for input; it invites those with metabolic conditions to be true collaborators in their own care and scientific progress for their conditions. We are building this research platform with and for the community, using daily care insights to fuel research defined by our collective priorities. 

flok’s novel approach has gained recognition: flok was selected as a member of the Chan Zuckerberg Initiative’s (CZI) Rare As One Project (RAO). This partnership integrates flok into an ecosystem of rare disease organisations, researchers, and clinicians working to innovate approaches and improve health outcomes in rare disease.  The CZI grant also provides five years of funding to expand our research capacity, and Microsoft’s AI for Good Lab has provided significant in-kind support to our platform’s underlying infrastructure.  Together, we are advancing care and unlocking new possibilities for medical breakthroughs for inherited metabolic disorders. Join us in transforming the future of metabolic care. Learn more about the flok app and our mission at flok.org

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