Tiago Cordeiro, lab head at Instituto de Tecnologia Química e Biológica António Xavier of NOVA University Lisbon ( ITQB NOVA ), in Portugal, is leading a new la Caixa project that aims to “ease the day-to-day burden for people living with phenylketonuria”, a rare metabolic disorder.
When we eat protein, our body breaks it down into its building blocks, called amino acids. Enzymes, (specialized molecules in our bodies, then process these amino acids so we can use them for vital functions.
People with phenylketonuria (PKU), a rare inherited condition, lack the enzyme needed to break down the amino acid phenylalanine. As a result, it builds up in the blood and brain. If left untreated, this buildup can cause serious, long-term problems, including permanent intellectual disability, seizures, delayed development, behavioral difficulties, and psychiatric disorders.
Treatment can prevent many of these outcomes, but it requires lifelong dietary and medical management. Because phenylalanine is present in most protein-containing foods, people with PKU must strictly limit their intake of meat, fish, dairy, nuts, and some grains. Safe phenylalanine intake also varies from person to person, so diets must be carefully individualized.
In practice, maintaining safe levels is challenging because phenylalanine cannot be easily measured in real time, at home. Monitoring typically relies on blood testing, which can involve an at‑home finger prick on filter paper that is mailed to a laboratory, followed by a wait of days to a week before a provider communicates results. For others, biomarkers can only be evaluated through in‑clinic blood draws. Depending on the condition and its severity, testing may be required every week. By the time results are available for review, patients may have already lost the opportunity to make timely adjustments.
The biggest toll is on children and their parents. Pregnant women with PKU must keep phenylalanine tightly controlled to prevent congenital defects in the fetus. “Imagine being pregnant or caring for a newborn and having to wait days for test results to know whether your child risks brain impairment,” the researcher points out.
This was the motivation behind this project. “When I was doing my PhD in Barcelona, I had the chance to know a couple who had a kid with PKU. This made it clear to me that we needed to work on a practical solution, fast”, explains Tiago Cordeiro.
Combining his biophysics of enzymes and macromolecular interactions with Paula Leandro’s (Faculdade de Farmácia da Universidade de Lisboa) know-how on PKU, they joined forces to create a portable device with biosensors that specifically and sensitively detect phenylalanine. The goal is to allow patients to measure their phenylalanine levels and adjust their diet and treatment in real time.
ITQB NOVA will serve as the hub for the project’s scientific and technological development, drawing on its expertise in intrinsically disordered proteins, electrochemistry, and microfabrication. To lead the electrochemistry and microfabrication efforts, Felipe Conzuelo, head of ITQB NOVA’s Bioelectrochemistry and Electrobiotechnology laboratory, and Jorge Carvalho, head of the Institute’s Makers Hub Research Facility, are joining in. The project also involves doctors and patient associations, such as APOFEN, to guarantee clinical validation of the sensors for a possible introduction into the market.
The project is one of the six selected in Portugal and will start with €50K for the development of a lab prototype for proof of concept. Further along, the research team can apply for additional funding through the same programme.
About CaixaImpulse Health Innovation
CaixaImpulse is an intensive 18-month acceleration programme that supports universities and research teams in validating and developing protected innovations in the fields of health and life sciences, with the aim of bringing them to market through spin-offs or licensing agreements.
The call is organized into three phases, with financial support and training tailored to each project’s stage of development. Funding can reach up to 700,000 euros, covering everything from proof of concept and prototype development to the preparation of regulatory filings and financial plans.