Once diagnosed with an inherited metabolic condition, our community members begin a lifelong journey of monitoring biomarkers to stay healthy. For some, this involves an at-home finger prick on filter paper, mailed submission to a laboratory, and a wait time from days to weeks before a provider contacts them with results. For others, biomarkers can only be evaluated by drawing blood in a clinical setting, which requires travel burden and wait time. Depending on the condition and its severity, a blood test may be needed several times a week. By the time blood samples are analyzed and ready for review, individuals have sacrificed time, the ability to make real-time adjustments, or worse, are in metabolic crisis. One way to improve this situation would be the availability of a convenient, immediate solution for condition management that places biomarker results directly in their hands.
After decades of scientific research to bridge this gap in care, better options are finally within sight. Point-of-care-testing has received increased attention from biochemists and entrepreneurs who understand our community's need for a patient-centered approach that improves both quality of life and health outcomes. With rapid results, individuals can adjust their diet, gain insight into their body's response to a medication, or seek immediate medical care. These tools have tremendous potential to enhance treatment. Our team at flok met with five technology companies developing user-friendly, at-home monitors our community members can incorporate into daily life without the burden and wait time. Read on to learn more about their cutting-edge science and plans for commercial release.
*Note: Many of the following tests are designed to measure phenylalanine levels for intended use by the phenylketonuria (PKU population), with the technological capability and potential to expand to other inherited metabolic conditions.
Allworth Diagnostics
We Spoke to: Terence Dunne, CEO
Product: Phenylalanine Monitor, a home blood test to measure phenylalanine
How it Works: Uses proprietary enzyme technology and advanced optics to recognize phenylalanine in a blood sample for measurement with a test strip sensor
Test Process: Place single use test strip in a handheld meter, prick finger using a lancet and drop blood into test strip sample port on the handheld monitor. Results display both on the monitor and mobile app via Bluetooth for personal review and distribution to clinical teams. The app also provides trends, insights, and graphs of results over time
Result Wait Time: 2 minutes
Differentiator: Ultra-low blood sample volume requiring a smaller, less painful lancet, and proven enzymatic technology that may expedite regulatory testing and commercial availability
Phase of Product Development: Beginning clinical evaluation of functional prototype in Europe in spring 2024
Commercial Release Goal: 2-3 years
Expansion Vision: Develop a range of home monitoring test solutions for inherited metabolic disorders including HCU, GAL, MSUD, and HT-1
Aptatek Biosciences
Product: Aptatek HomeCheck System, a home blood test to measure phenylalanine
How it Works: Uses proprietary assay technology in which an aptamer (a short DNA strand) binds to the phenylalanine molecule to quantify it
Test Process: Prick finger with a lancet, collect blood with a sample cartridge, attach it to a detection strip, and insert strip into the tabletop reader system. Results are sent to mobile app via Bluetooth for personal review with analytics, and distribution to clinical team
Result Wait Time: 30 minutes
Differentiator: Has an expedited timeline for clinical testing through FDA designation
Phase of Product Development: Received a Breakthrough Device designation from the FDA and actively testing with individuals in pre-clinical trials
Commercial Release Goal: <2 years
Expansion Vision: Currently developing a tyrosine aptamer for individuals with HT-1 with the goal to expand to additional metabolic conditions
Circa Biosciences
We Spoke to: Bioengineers Robert Latour and Kevin Champaigne, CEO
Product: Rally Phenometer, a home urine test to measure phenylalanine
How it Works: Measures phenylalanine by combining its byproduct, phenylpyruvic acid (PPA), found in urine with digital photography to create a quantifiable color read
Test Process: Dip a paper coupon into urine sample and insert it into tabletop reader. Results display digitally on the reader device
Result Wait Time: 2 minutes
Differentiator: Only non-invasive test that uses a urine sample for home monitoring of phenylalanine
Phase of Product Development: In a clinical study in collaboration with Greenwood Genetics Center in South Carolina to further assess correlation between PPA and blood phenylalanine level to improve accuracy, and designing a streamlined device prototype
Commercial Release Goal: 2027
Expansion Vision: Research of other metabolic conditions with amino acids byproducts found in urine for application with broader community
Egoo.Health
We Spoke to: Peter Warthoe, Founder and Christopher Lee Dahm, Marketing Manager
Product: Egoo Phe Test, a home blood test to measure phenylalanine
How it Works: Combines assay technology with a bioluminescent detection system that converts light from a blood sample to a phenylalanine concentration for measurement
Test Process: Remove phe capsule from the freezer and thaw it for 10 minutes. Prick finger with a lancet, squeeze two drops into collection area, remove sample stick from collection area and insert into phe capsule, then place capsule into tabletop Egoo Analyzer. Scan capsule barcode on smartphone to display results on Egoo Connect App for personal review and distribution to clinical team
Result Wait Time: 45 minutes
Differentiator: Sleek and small design with aesthetic appeal
Phase of Product Development: Beginning a research collaboration led by Rani Singh, PhD, RDN under the IRB-approved research protocol for Emory University's Metabolic Camp in June 2024 to test the device
Commercial Release Goal: 2-3 years for CE marking (European regulatory designation for clinical use)
Expansion Vision: Capsule creation for a range of biomarkers – including leucine, isoleucine, valine, tyrosine, and lysine– that are all compatible with the Egoo Analyzer device to serve the broader metabolic community
Enhance Diagnostics
We Spoke to: Bioengineer Robert Latour
Product: A home breath test to measure ammonia
How it Works: Uses a colorimetric method that detects ammonia in exhaled breath and turns various shades of green that correlate with ammonia
Test Process: Blow through a mouthpiece on the handheld instrument to inflate its one-liter bag with exhaled breath, remove color indicator disc, and insert disc into the reader for results
Result Wait Time: <5 minutes
Differentiator: A non-invasive approach to home monitoring of blood ammonia with application for the UCD community
Phase of Product Development: Submitted funding application in April 2024 for system optimization for UCD application with plans for large-scale clinical testing in late 2025
Commercial Release Goal: 2028
Expansion Vision: To also use product in clinical settings to avoid multiple blood draws and to produce immediate results
In Vitro Diagnostic Solutions
We Spoke to: Robert Harper, Founder & CEO
Product: PKU Now Platform, a home blood test to measure phenylalanine
How it Works: Combines proprietary assay technology in a test strip with a light reflectance-based meter to quantify phenylalanine concentration utilizing a smartphone app
Test Process: Insert test strip into test strip housing, prick finger with lancet, and collect blood in capillary tube. Use a smartphone to scan QR code on test strip, enter patient ID, and dispense blood into sample well of the test strip. Results will display on the PKU Now app. A separate app, PKU Now-Connect, graphs phenylalanine results over time, along with user-contributed information on medication, mood, diet, and cognitive function, for personal review and distribution to clinical team
Result Wait Time: 3 minutes
Differentiator: Features app functions to capture a holistic clinical picture beyond phenylalanine test results
Phase of Product Development: Received two grants from the National Institutes of Health and began clinical trials for FDA approval at Boston Children’s Hospital and University of Pittsburgh Medical Center in May 2024
Commercial Release Goal: 2025
Expansion Vision: To develop point-of-care devices for individuals with inherited metabolic conditions to measure biomarkers. Research and development currently underway for homocysteine (relevant to HCU) and ammonia measurement (relevant to UCDs)
Looking Forward
Home monitoring devices will improve management and quality of life for individuals with an inherited metabolic condition, and also provide vital data points to deepen understanding of their condition. When these products receive regulatory approval and enter the market, the flok app will be instrumental in providing lifestyle and clinical data to better understand test results. Our machine learning technology will leverage data points encompassing physical activity, symptoms, diet, and medications to establish correlations with biomarker levels, with the potential to predict elevations. Through emerging technology in home testing and flok’s patient-driven research platform, we will lay the groundwork for new insights and significant advancements in the study and treatment of our metabolic conditions.
