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METAdiag · Project

Blood Test Platform That Catches Rare Diseases Early Using AI-Powered Diagnostics

healthMarket-readyTRL 9

Imagine a simple blood test that can tell doctors exactly what nutrients your cells are hungry for — and flag when something is seriously wrong. That's what METAFORA built: a diagnostic platform that reads the surface of blood cells like a barcode scanner, counting the tiny "doors" cells use to take in glucose, vitamins, and amino acids. Their first product catches a rare but treatable brain disease in children (GLUT1 Deficiency Syndrome) that often goes undiagnosed for years. The same technology is being extended to detect and monitor cancers by reading how tumor cells feed themselves.

By the numbers
€52M
Projected cumulative revenues within 5 years of first test commercialization
75
Jobs anticipated to be created within 5 years of commercialization
€3,202,530
EU contribution to scale commercialization
5
Major European target markets (Germany, UK, France, Italy, Spain)
3 years
Timeline after Phase 2 for cancer diagnostic test market launch
The business problem

What needed solving

Rare neuro-metabolic diseases like GLUT1 Deficiency Syndrome in children often go undiagnosed for years because there is no simple, routine blood test available. Late diagnosis means years of preventable neurological damage for patients and missed treatment windows. Diagnostic labs and pediatric networks lack accessible tools to screen for these conditions at scale.

The solution

What was built

A CE-marked blood-based diagnostic test (METAglut1) for early detection of GLUT1 Deficiency Syndrome in children, plus a medical guide for physicians on patient management. The underlying METAdiag platform uses proprietary biomarkers and AI algorithms to quantify nutrient transporters on cell surfaces, with planned extension into cancer diagnostics.

Audience

Who needs this

Large reference laboratories expanding their rare disease test menusNewborn screening program operators in Europe and the USAChildren's hospitals and pediatric neurology departmentsOncology companion diagnostics companies seeking new biomarker platformsIVD distributors looking for exclusive regional rights to innovative tests
Business applications

Who can put this to work

Medical Diagnostics Laboratories
enterprise
Target: Large reference labs and hospital lab networks

If you are a diagnostic laboratory looking to expand your rare disease testing menu — this project developed METAglut1, a CE-marked blood test for GLUT1 Deficiency Syndrome already partnered with CERBA Healthcare. The platform uses AI-driven analysis of cell-surface nutrient transporters, opening a new diagnostic category. METAFORA targets rollout across 5 major European markets and North America.

Pediatric Healthcare Networks
any
Target: Children's hospitals and newborn screening programs

If you are a pediatric care provider struggling with delayed diagnosis of neuro-metabolic diseases in children — METAglut1 offers early detection of GLUT1 Deficiency Syndrome through a blood test, with plans for a finger prick version. Late diagnosis means years of preventable neurological damage. The project also targets newborn screening programs in the USA.

Pharmaceutical & Oncology
enterprise
Target: Oncology drug developers and companion diagnostics companies

If you are a pharma company needing better tools for cancer diagnosis and therapeutic monitoring — the METAdiag platform is being extended beyond rare diseases into cancer detection. The technology reads how cancer cells consume nutrients differently, with a cancer diagnostic test planned for market launch approximately 3 years after Phase 2 completion. METAFORA projects cumulative revenues of over €52M within 5 years of first test commercialization.

Frequently asked

Quick answers

What does this test cost and is it reimbursable?

Based on available project data, the reimbursement pathway is a key next step — METAFORA planned a large-scale European validation study specifically to secure test reimbursement. Pricing is not disclosed in the project data, but as a specialized IVD test targeting rare diseases, it would need payer approval for broad adoption.

Is this ready for industrial-scale deployment?

Yes, METAglut1 is CE-marked and already has a partnering agreement with CERBA Healthcare, a leading European medical testing laboratory. The project received EUR 3,202,530 in EU funding to scale from validated test to commercial rollout across Germany, UK, France, Italy, Spain, and North America.

What is the IP and licensing situation?

METAFORA BIOSYSTEMS owns proprietary biomarkers called Receptor Binding Domains (RBDs) that are the core of the platform. As the sole partner and an SME, all IP stays with the company. The existing CERBA Healthcare partnership suggests licensing or distribution agreements are the go-to-market model.

How proven is the clinical evidence?

METAglut1 test results have been published in a leading scientific journal, and the test has achieved CE marking — the regulatory approval required for diagnostic use in Europe. A large-scale validation study was planned to strengthen the evidence base for reimbursement decisions.

What is the timeline for the cancer diagnostic test?

Based on the project objective, the cancer diagnosis and therapeutic monitoring test was contemplated for market launch approximately 3 years after the Phase 2 project ended (project ended June 2021). This positions the cancer application in the mid-2020s timeframe.

Can this integrate with existing lab workflows?

The test is designed for routine clinical practice and is already deployed through CERBA Healthcare's laboratory network. Plans include downsizing to a finger prick blood test format, which would further simplify sample collection and expand point-of-care use.

What market size are we talking about?

METAFORA projects cumulative revenues of over €52M and 75 jobs created within 5 years of first test commercialization. The platform targets the broader In Vitro Diagnostics market, starting with rare disease and expanding into oncology diagnostics.

Consortium

Who built it

This is a single-company project — METAFORA BIOSYSTEMS, a French SME, is the sole partner. This is typical for SME Instrument Phase 2 funding, which targets high-growth companies ready to scale. The 100% industry composition and SME status signal a commercially-driven project with no academic partners to slow down product development. The EUR 3,202,530 EU investment went directly into a company that already had a CE-marked product and a partnership with CERBA Healthcare, one of Europe's largest lab networks. For a business partner, this means one decision-maker, clear IP ownership, and a company built to commercialize — not a research consortium that needs years to agree on next steps.

How to reach the team

METAFORA BIOSYSTEMS is based in France — contact their business development team via metafora-biosystems.com

Next steps

Talk to the team behind this work.

Want an introduction to METAFORA BIOSYSTEMS to discuss licensing, distribution, or partnership opportunities? SciTransfer can arrange a direct meeting with the team.

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