Rare diseases like phenylketonuria (PKU) may affect small patient populations, but the impact on individuals and families is profound. PKU—the most common form of hyperphenylalaninemia (HPA)—is a rare inherited metabolic disorder that, if left undiagnosed or untreated, can lead to irreversible neurological damage, including intellectual disability and seizures.
With an estimated 0.45 million people affected globally, understanding real-world disease burden, treatment patterns, and outcomes has never been more important.
At the PHARMO Institute, part of Lumanity, we are leveraging the power of real-world evidence to shine a light on PKU and other HPAs—helping researchers, clinicians, and life sciences companies turn data into decisions that matter for patients.
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